ClinVar Miner

Submissions for variant NM_024513.4(FYCO1):c.528_529insGGCAAAGT (p.Thr177fs)

dbSNP: rs2125859204
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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 RCV001967448 SCV002197583 pathogenic Cataract 18 2021-04-16 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with FYCO1-related conditions. This sequence change creates a premature translational stop signal (p.Thr177Glyfs*10) 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 not present in population databases (ExAC no frequency). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. For these reasons, this variant has been classified as Pathogenic.

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