ClinVar Miner

Submissions for variant NM_024513.4(FYCO1):c.2966C>T (p.Ala989Val)

gnomAD frequency: 0.00006  dbSNP: rs142098311
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001035620 SCV001198954 uncertain significance Cataract 18 2021-07-16 criteria provided, single submitter clinical testing This variant is present in population databases (rs142098311, ExAC 0.01%). 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 output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C55". The valine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with FYCO1-related conditions. This sequence change replaces alanine with valine at codon 989 of the FYCO1 protein (p.Ala989Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine.

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