ClinVar Miner

Submissions for variant NM_003896.4(ST3GAL5):c.592A>T (p.Ile198Phe)

dbSNP: rs2103958837
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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 RCV002004790 SCV002232650 uncertain significance GM3 synthase deficiency 2022-08-23 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with ST3GAL5-related conditions. This sequence change replaces isoleucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 198 of the ST3GAL5 protein (p.Ile198Phe). This variant is not present in population databases (gnomAD no frequency). ClinVar contains an entry for this variant (Variation ID: 1450204). 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: "Possibly Damaging"; Align-GVGD: "Class C0"). 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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