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Epidermolysis bullosa simplex with nail dystrophy

PLEC · rs2538506282

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

2 / 4

ClinVar classifies it as disease-causing (or likely), reviewed at 1 of 4 stars.

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 Pathogenic for Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex, Ogna type, Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex 5B, with muscular dystrophy, Epidermolysis bullosa simplex 5C, with pyloric atresia; criteria provided, single submitter (1 of 4 stars, 1 submitter), last evaluated 2023-03-07. ClinVar record 2941007 NM_201384.3(PLEC):c.2917G>T (p.Glu973Ter)

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 with nail 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. So far only one lab has made this call, so it may change. (ClinVar VCV002941007, criteria provided, single submitter)

A/C One copy of the version ClinVar lists as disease-causing for Epidermolysis bullosa simplex with nail 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. So far only one lab has made this call, so it may change. (ClinVar VCV002941007, criteria provided, single submitter)

C/C No copy of the version ClinVar lists as disease-causing for Epidermolysis bullosa simplex with nail dystrophy. This is the usual result. So far only one lab has made this call, so it may change. (ClinVar VCV002941007, criteria provided, single submitter)

Source: ClinVar VCV002941007, criteria provided, single submitter

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 with nail dystrophy (rs2538506282). MyGeneLog™. https://www.mygenelog.com/variants/rs2538506282

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