ClinVar Miner

Submissions for variant NM_003896.4(ST3GAL5):c.344T>A (p.Val115Asp)

dbSNP: rs1370274550
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000805478 SCV000945435 uncertain significance GM3 synthase deficiency 2022-08-10 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 650345). This variant has not been reported in the literature in individuals affected with ST3GAL5-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change replaces valine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 115 of the ST3GAL5 protein (p.Val115Asp).

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