COL3A1 · rs587779692
Where this position leads
Condition: Ehlers-Danlos Syndrome, Type 4
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 Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection, Connective and Soft Tissue Disorder, COL3A1-related disorder; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 10 submitters), last evaluated 2026-01-25.
ClinVar record 101452 NM_000090.4(COL3A1):c.1258G>A (p.Gly420Ser)
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 VCV000101452, criteria provided, multiple submitters, no conflicts
rs587779692 is a single position in the genome, in or near the COL3A1 gene. Published research associates it with ehlers-danlos syndrome, type 4. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
On MyGeneLog this position is linked to Ehlers-Danlos Syndrome, Type 4. The research behind each link, and its sources, are set out on that condition page.
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 VCV000101452, 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.
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
Ehlers-Danlos syndrome, type 4 (rs587779692). MyGeneLog™. https://www.mygenelog.com/variants/rs587779692