ClinVar Miner

Submissions for variant NM_006279.5(ST3GAL3):c.343C>T (p.Arg115Cys)

dbSNP: rs948699026
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001294248 SCV001483118 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2022-07-19 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 115 of the ST3GAL3 protein (p.Arg115Cys). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ST3GAL3-related conditions. ClinVar contains an entry for this variant (Variation ID: 998398). 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.
Ambry Genetics RCV002451648 SCV002615199 uncertain significance Inborn genetic diseases 2021-12-14 criteria provided, single submitter clinical testing The c.343C>T (p.R115C) alteration is located in exon 6 (coding exon 5) of the ST3GAL3 gene. This alteration results from a C to T substitution at nucleotide position 343, causing the arginine (R) at amino acid position 115 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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