ClinVar Miner

Submissions for variant NM_003896.4(ST3GAL5):c.856T>A (p.Trp286Arg)

gnomAD frequency: 0.00004  dbSNP: rs570665646
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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 RCV000704094 SCV000833028 uncertain significance GM3 synthase deficiency 2022-08-09 criteria provided, single submitter clinical testing This sequence change replaces tryptophan, which is neutral and slightly polar, with arginine, which is basic and polar, at codon 286 of the ST3GAL5 protein (p.Trp286Arg). This variant is present in population databases (rs570665646, gnomAD 0.003%). 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: 580526). 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 create or strengthen a 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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