ClinVar Miner

Submissions for variant NM_006876.3(B4GAT1):c.485G>A (p.Arg162His)

dbSNP: rs1565209634
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000704142 SCV000833080 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 2020-02-12 criteria provided, single submitter clinical testing 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 tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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. This variant has not been reported in the literature in individuals with B4GAT1-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with histidine at codon 162 of the B4GAT1 protein (p.Arg162His). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and histidine.

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