ClinVar Miner

Submissions for variant NM_003896.4(ST3GAL5):c.356A>G (p.Glu119Gly)

gnomAD frequency: 0.00009  dbSNP: rs368983131
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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 RCV001316087 SCV001506689 uncertain significance GM3 synthase deficiency 2022-09-07 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 119 of the ST3GAL5 protein (p.Glu119Gly). This variant is present in population databases (rs368983131, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with ST3GAL5-related conditions. ClinVar contains an entry for this variant (Variation ID: 1017002). 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 C35"). 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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