ClinVar Miner

Submissions for variant NM_024513.4(FYCO1):c.3861del (p.Glu1287fs)

dbSNP: rs777269054
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001905836 SCV002148023 pathogenic Cataract 18 2023-08-17 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1386641). This sequence change creates a premature translational stop signal (p.Glu1287Aspfs*36) 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 (rs777269054, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with FYCO1-related conditions. For these reasons, this variant has been classified as Pathogenic.

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