ClinVar Miner

Submissions for variant NM_024513.4(FYCO1):c.3330C>A (p.Cys1110Ter)

gnomAD frequency: 0.00004  dbSNP: rs764164884
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kariminejad - Najmabadi Pathology & Genetics Center RCV001814428 SCV001755325 likely pathogenic Abnormality of the eye 2021-07-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005094751 SCV005810476 pathogenic Cataract 18 2024-03-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys1110*) in the FYCO1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FYCO1 are known to be pathogenic (PMID: 21636066). This variant is present in population databases (rs764164884, gnomAD 0.006%). This premature translational stop signal has been observed in individual(s) with autosomal recessive congenital cataracts (PMID: 35754085). ClinVar contains an entry for this variant (Variation ID: 1180699). For these reasons, this variant has been classified as Pathogenic.

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