ClinVar Miner

Submissions for variant NM_024513.4(FYCO1):c.575G>A (p.Trp192Ter)

dbSNP: rs200679450
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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 RCV001955541 SCV002224239 pathogenic Cataract 18 2022-01-16 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This variant has not been reported in the literature in individuals affected with FYCO1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp192*) 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). For these reasons, this variant has been classified as Pathogenic.

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