ClinVar Miner

Submissions for variant NM_006876.3(B4GAT1):c.952G>A (p.Val318Met)

gnomAD frequency: 0.00001  dbSNP: rs1008736415
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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 RCV001374240 SCV001571038 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 2021-12-03 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 318 of the B4GAT1 protein (p.Val318Met). This variant is present in population databases (no rsID available, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with B4GAT1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1064288). 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: "Tolerated"; 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.
PreventionGenetics, part of Exact Sciences RCV003399188 SCV004106076 uncertain significance B4GAT1-related disorder 2023-02-03 criteria provided, single submitter clinical testing The B4GAT1 c.952G>A variant is predicted to result in the amino acid substitution p.Val318Met. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0026% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/11-66114065-C-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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