ClinVar Miner

Submissions for variant NM_006876.3(B4GAT1):c.688A>C (p.Met230Leu)

dbSNP: rs774850290
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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 RCV001955678 SCV002223368 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 2022-06-20 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 tolerated. This variant has not been reported in the literature in individuals affected with B4GAT1-related conditions. This variant is present in population databases (rs774850290, gnomAD 0.0009%). This sequence change replaces methionine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 230 of the B4GAT1 protein (p.Met230Leu).
Ambry Genetics RCV002562867 SCV003632835 uncertain significance Inborn genetic diseases 2022-07-22 criteria provided, single submitter clinical testing The c.688A>C (p.M230L) alteration is located in exon 1 (coding exon 1) of the B4GAT1 gene. This alteration results from a A to C substitution at nucleotide position 688, causing the methionine (M) at amino acid position 230 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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