GFER · rs780851934
Where this position leads
Condition: Cataract
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
Conflicting classifications of pathogenicity for Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome; criteria provided, conflicting classifications (1 of 4 stars, 2 submitters), last evaluated 2022-04-22.
ClinVar record 1699133 NM_005262.3(GFER):c.580C>T (p.Arg194Cys)
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 VCV001699133, criteria provided, conflicting classifications
rs780851934 is a single position in the genome, in or near the GFER gene. Published research associates it with congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome. 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 Cataract. 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 VCV001699133, criteria provided, conflicting classifications. 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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Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome (rs780851934). MyGeneLog™. https://www.mygenelog.com/variants/rs780851934