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Epidermolysis bullosa simplex 5B, with muscular dystrophy

PLEC · rs79489944

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 Conflicting classifications of pathogenicity for Epidermolysis bullosa simplex 5B, with muscular dystrophy, Epidermolysis bullosa simplex 5C, with pyloric atresia, Epidermolysis bullosa simplex, Ogna type, Epidermolysis bullosa simplex with nail dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2Q; criteria provided, conflicting classifications (1 of 4 stars, 4 submitters), last evaluated 2025-10-20. ClinVar record 539009 NM_201384.3(PLEC):c.7098G>T (p.Arg2366=)

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 labs disagree about for Epidermolysis bullosa simplex 5B, with muscular dystrophy: in ClinVar, some labs call it disease-causing and others do not. 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. (ClinVar VCV000539009, criteria provided, conflicting classifications)

A/C One copy of the version labs disagree about for Epidermolysis bullosa simplex 5B, with muscular dystrophy: in ClinVar, some labs call it disease-causing and others do not, so what one copy means is not settled. A genetic counsellor can look at the separate records. (ClinVar VCV000539009, criteria provided, conflicting classifications)

C/C No copy of the version labs disagree about for Epidermolysis bullosa simplex 5B, with muscular dystrophy: in ClinVar, some labs call it disease-causing and others do not. This is the usual result. (ClinVar VCV000539009, criteria provided, conflicting classifications)

Source: ClinVar VCV000539009, criteria provided, conflicting classifications

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 (rs79489944). MyGeneLog™. https://www.mygenelog.com/variants/rs79489944

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