ClinVar Miner

Submissions for variant NM_024513.4(FYCO1):c.1852A>G (p.Asn618Asp)

gnomAD frequency: 0.00004  dbSNP: rs745338967
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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 RCV000644758 SCV000766464 uncertain significance Cataract 18 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces asparagine with aspartic acid at codon 618 of the FYCO1 protein (p.Asn618Asp). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and aspartic acid. This variant is present in population databases (rs745338967, ExAC 0.01%). This variant has not been reported in the literature in individuals affected with FYCO1-related conditions. 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: "Benign"; Align-GVGD: "Class C0"). 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.

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