ClinVar Miner

Submissions for variant NM_024513.4(FYCO1):c.3161del (p.Ala1054fs)

dbSNP: rs2125846016
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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 RCV002011903 SCV002218193 pathogenic Cataract 18 2021-10-10 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with FYCO1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ala1054Glufs*7) 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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