ClinVar Miner

Submissions for variant NM_024513.4(FYCO1):c.280A>G (p.Ile94Val)

dbSNP: rs755356775
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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 RCV000528394 SCV000645134 uncertain significance Cataract 18 2017-01-16 criteria provided, single submitter clinical testing In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a FYCO1-related disease. This sequence change replaces isoleucine with valine at codon 94 of the FYCO1 protein (p.Ile94Val). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and valine.

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