ClinVar Miner

Submissions for variant NM_003896.4(ST3GAL5):c.997G>A (p.Gly333Ser)

dbSNP: rs2103935120
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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 RCV001867630 SCV002136250 uncertain significance GM3 synthase deficiency 2021-08-03 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. This variant has not been reported in the literature in individuals affected with ST3GAL5-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with serine at codon 333 of the ST3GAL5 protein (p.Gly333Ser). The glycine residue is highly conserved and there is a small physicochemical difference between glycine and serine.

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