ClinVar Miner

Submissions for variant NM_024513.4(FYCO1):c.2345del (p.Gln782fs)

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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 RCV002664304 SCV003525215 pathogenic Cataract 18 2022-10-17 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with congenital cataracts (PMID: 27878435, 28418495). This variant is present in population databases (rs775542878, gnomAD 0.002%). This sequence change creates a premature translational stop signal (p.Gln782Argfs*32) 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).

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