ClinVar Miner

Submissions for variant NM_006876.3(B4GAT1):c.377C>T (p.Ala126Val)

dbSNP: rs1161795181
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000658418 SCV000780190 uncertain significance not provided 2018-05-30 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the B4GAT1 gene. The A126V variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The A126V variant is not observed in large population cohorts (Lek et al., 2016). The A126V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. In-silico analyses, including protein predictors and evolutionary conservation, support that this variant does not alter protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Labcorp Genetics (formerly Invitae), Labcorp RCV001295240 SCV001484155 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 2022-07-19 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 546525). This variant has not been reported in the literature in individuals affected with B4GAT1-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 126 of the B4GAT1 protein (p.Ala126Val).

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