PLEC · rs782178037
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.
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 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, Epidermolysis bullosa simplex, Ogna type and 1 more; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 3 submitters), last evaluated 2026-01-26.
ClinVar record 569981 NM_201384.3(PLEC):c.3973G>A (p.Glu1325Lys)
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 2023-05-13.
ClinVar record 2947743 NM_201384.3(PLEC):c.3973G>T (p.Glu1325Ter)
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.
Source: ClinVar VCV002947743, criteria provided, single submitter
rs782178037 is a single position in the genome, in or near the PLEC gene. Published research associates it with epidermolysis bullosa simplex with nail dystrophy. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
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.
ClinVar VCV002947743, criteria provided, single submitter. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.
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Epidermolysis bullosa simplex with nail dystrophy (rs782178037). MyGeneLog™. https://www.mygenelog.com/variants/rs782178037