ClinVar Miner

Submissions for variant NM_003896.4(ST3GAL5):c.154C>G (p.Arg52Gly)

gnomAD frequency: 0.00001  dbSNP: rs748497823
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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 RCV001959615 SCV002256404 uncertain significance GM3 synthase deficiency 2022-03-02 criteria provided, single submitter clinical testing 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: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with ST3GAL5-related conditions. This variant is present in population databases (rs748497823, gnomAD 0.006%). This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 52 of the ST3GAL5 protein (p.Arg52Gly).

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