ClinVar Miner

Submissions for variant NM_024513.4(FYCO1):c.4280C>T (p.Ser1427Phe)

dbSNP: rs2125787935
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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 RCV002045079 SCV002290422 uncertain significance Cataract 18 2021-04-16 criteria provided, single submitter clinical testing This variant has been observed in individual(s) with congenital cataracts (Invitae). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with phenylalanine at codon 1427 of the FYCO1 protein (p.Ser1427Phe). The serine residue is moderately conserved and there is a large physicochemical difference between serine and phenylalanine.

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