ClinVar Miner

Submissions for variant NM_003896.4(ST3GAL5):c.361C>T (p.Arg121Cys)

gnomAD frequency: 0.00001  dbSNP: rs779973935
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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 RCV001053551 SCV001217819 uncertain significance GM3 synthase deficiency 2022-02-24 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 121 of the ST3GAL5 protein (p.Arg121Cys). This variant is present in population databases (rs779973935, gnomAD 0.01%). 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: 849555). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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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