ClinVar Miner

Submissions for variant NM_000147.5(FUCA1):c.422G>C (p.Gly141Ala)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002909006 SCV003253570 uncertain significance Fucosidosis 2022-05-27 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 141 of the FUCA1 protein (p.Gly141Ala). This variant is present in population databases (rs753232669, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with FUCA1-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: "Probably Damaging"; 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004587389 SCV005076333 uncertain significance not specified 2024-04-12 criteria provided, single submitter clinical testing Variant summary: FUCA1 c.422G>C (p.Gly141Ala) results in a non-conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 2e-05 in 251490 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.422G>C in individuals affected with Fucosidosis and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 2045928). Based on the evidence outlined above, the variant was classified as uncertain significance.

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