SCN4A · rs121908547
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
ClinVar classifies it as disease-causing (or likely), reviewed at 2 of 4 stars.
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 Paramyotonia congenita of Von Eulenburg, Hyperkalemic periodic paralysis, SCN4A-related non-dystrophic myotonia, Congenital myasthenic syndrome 16, SCN4A-related disorder and 1 more; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 13 submitters), last evaluated 2026-01-11.
ClinVar record 5904 NM_000334.4(SCN4A):c.3938C>T (p.Thr1313Met)
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 VCV000005904, criteria provided, multiple submitters, no conflicts
rs121908547 is a single position in the genome, in or near the SCN4A gene. Published research associates it with paramyotonia congenita of von eulenburg. 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 VCV000005904, criteria provided, multiple submitters, no conflicts. 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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Paramyotonia congenita of Von Eulenburg (rs121908547). MyGeneLog™. https://www.mygenelog.com/variants/rs121908547