ClinVar Miner

Submissions for variant NM_006876.3(B4GAT1):c.241G>A (p.Val81Ile)

gnomAD frequency: 0.00004  dbSNP: rs774458027
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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 RCV001986804 SCV002280024 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 2021-09-24 criteria provided, single submitter clinical testing This sequence change replaces valine with isoleucine at codon 81 of the B4GAT1 protein (p.Val81Ile). The valine residue is highly conserved and there is a small physicochemical difference between valine and isoleucine. This variant is present in population databases (rs774458027, ExAC 0.01%). This variant has not been reported in the literature in individuals with B4GAT1-related conditions. 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.
Ambry Genetics RCV004045424 SCV004911621 uncertain significance Inborn genetic diseases 2024-01-08 criteria provided, single submitter clinical testing The c.241G>A (p.V81I) alteration is located in exon 1 (coding exon 1) of the B4GAT1 gene. This alteration results from a G to A substitution at nucleotide position 241, causing the valine (V) at amino acid position 81 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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