DES · rs397516694
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/Likely pathogenic for Desmin-related myofibrillar myopathy, Arrhythmogenic right ventricular cardiomyopathy; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 4 submitters), last evaluated 2025-07-29.
ClinVar record 44259 NM_001927.4(DES):c.380G>C (p.Arg127Pro)
Classification
Uncertain significance; criteria provided, single submitter (1 of 4 stars, 1 submitter), last evaluated 2019-12-19.
ClinVar record 2440740 NM_001927.4(DES):c.380G>A (p.Arg127His)
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 VCV000044259, criteria provided, multiple submitters, no conflicts
rs397516694 is a single position in the genome, in or near the DES gene. Published research associates it with desmin-related myofibrillar myopathy. 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 VCV000044259, 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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Desmin-related myofibrillar myopathy (rs397516694). MyGeneLog™. https://www.mygenelog.com/variants/rs397516694