ClinVar Miner

Submissions for variant NM_003896.4(ST3GAL5):c.422T>C (p.Leu141Ser)

gnomAD frequency: 0.00001  dbSNP: rs772327731
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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 RCV001372341 SCV001568978 uncertain significance GM3 synthase deficiency 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces leucine with serine at codon 141 of the ST3GAL5 protein (p.Leu141Ser). The leucine residue is highly conserved and there is a large physicochemical difference between leucine and serine. This variant is present in population databases (rs772327731, ExAC 0.07%). This variant has not been reported in the literature in individuals affected with ST3GAL5-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: "Benign"; Align-GVGD: "Class C65"). 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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