ClinVar Miner

Submissions for variant NM_152490.5(B3GALNT2):c.1324A>T (p.Ser442Cys)

gnomAD frequency: 0.00001  dbSNP: rs1041647688
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001806269 SCV002050321 uncertain significance not provided 2021-07-01 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 23453667, 27535533)
Labcorp Genetics (formerly Invitae), Labcorp RCV002541374 SCV003285536 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 2021-12-07 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 442 of the B3GALNT2 protein (p.Ser442Cys). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with B3GALNT2-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: "Probably 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.
Revvity Omics, Revvity RCV002541374 SCV003829722 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 2020-03-25 criteria provided, single submitter clinical testing

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