ClinVar Miner

Submissions for variant NM_006876.3(B4GAT1):c.409G>A (p.Val137Met)

dbSNP: rs376914969
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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 RCV002002308 SCV002227746 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 2022-12-06 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 137 of the B4GAT1 protein (p.Val137Met). 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt B4GAT1 protein function. ClinVar contains an entry for this variant (Variation ID: 1448687). This variant has not been reported in the literature in individuals affected with B4GAT1-related conditions. This variant is present in population databases (rs376914969, gnomAD 0.003%).
GeneDx RCV003442975 SCV004168857 uncertain significance not provided 2023-04-17 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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