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Epidermolysis bullosa simplex 5B, with muscular dystrophy

PLEC · rs387906801

Stands on its own. Nothing else here links to this position yet — but the page above is the point: what the research found, what each genotype means, and where it came from, in language you can read. Links to conditions, drugs and the senses appear automatically if we write them.

Strength of the evidence

There is no record yet to score this position by (a ClinVar disease classification or a genome-wide significant study). That is not the same as weak evidence.

How this is scored

4: ClinVar disease-causing, reviewed by an expert panel or a guideline (3–4 stars). 3: ClinVar, several labs agreeing (2 stars), or a genetic study at p ≤ 10−50. 2: ClinVar from one lab (1 star), or p ≤ 10−20. 1: ClinVar submitted without criteria (0 stars), or genome-wide significance (p ≤ 5×10−8). The higher of the two counts. It says how solid the evidence is, not whether it matters for a particular person.

What ClinVar records

Classification Uncertain significance for Epidermolysis bullosa simplex, Ogna type, Epidermolysis bullosa simplex 5C, with pyloric atresia, Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex 5B, with muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2Q; criteria provided, single submitter (1 of 4 stars, 1 submitter), last evaluated 2024-03-01. ClinVar record 651488 NM_201384.3(PLEC):c.6088C>A (p.Gln2030Lys)

Classification Pathogenic for Epidermolysis bullosa simplex 5B, with muscular dystrophy; no assertion criteria provided (0 of 4 stars, 1 submitter), last evaluated 2011-01-25. ClinVar record 30173 NM_201384.3(PLEC):c.6088C>T (p.Gln2030Ter)

Change history MyGeneLog™ keeps a copy of every weekly release from 2026-10-19 and compares them. This position's classification has not changed since.

What this is ClinVar's aggregate record for this position (as of its 2026-10-19 release), not a result about you. A classification describes the variant against the condition named, as laboratories submitted it. Whether a person carries this variant, and what that would mean for them, is a question for a clinical test and a genetic counsellor.

What each result means

A/A Two copies of the version ClinVar lists as disease-causing for Epidermolysis bullosa simplex 5B, with muscular dystrophy. A result like this should be confirmed by a medical genetic test and talked through with a doctor; consumer DNA files can misread rare variants. This call was sent to ClinVar without the lab's criteria, the least certain kind of record, so it may change. (ClinVar VCV000030173, no assertion criteria provided)
A/G One copy of the version ClinVar lists as disease-causing for Epidermolysis bullosa simplex 5B, with muscular dystrophy. Some conditions need only one copy; for others, one copy makes a person a carrier who is usually healthy but can pass it on. A genetic counsellor can say which applies. This call was sent to ClinVar without the lab's criteria, the least certain kind of record, so it may change. (ClinVar VCV000030173, no assertion criteria provided)
G/G No copy of the version ClinVar lists as disease-causing for Epidermolysis bullosa simplex 5B, with muscular dystrophy. This is the usual result. This call was sent to ClinVar without the lab's criteria, the least certain kind of record, so it may change. (ClinVar VCV000030173, no assertion criteria provided)

Source: ClinVar VCV000030173, no assertion criteria provided

Questions about rs387906801

What is rs387906801?

rs387906801 is a single position in the genome, in or near the PLEC gene. Published research associates it with epidermolysis bullosa simplex 5b, with muscular dystrophy. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs387906801 mean I will get this?

No. Common variants like this one move a probability slightly and, on their own, rarely decide anything about one person. Nothing on this page is a diagnosis, and health decisions should be made with a clinician who can see your whole picture.

Where does the information about rs387906801 come from?

ClinVar VCV000030173, no assertion criteria provided. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

Quoting this page

Licensed CC BY-NC 4.0: free to read, share and adapt for non-commercial use, naming MyGeneLog™ and linking the exact page. Commercial use, including training or serving a commercial AI system, needs a licence — https://www.mygenelog.com/license

Epidermolysis bullosa simplex 5B, with muscular dystrophy (rs387906801). MyGeneLog™. https://www.mygenelog.com/variants/rs387906801

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