ClinVar Miner

Submissions for variant NM_006876.3(B4GAT1):c.144C>A (p.Phe48Leu)

gnomAD frequency: 0.00001  dbSNP: rs756392214
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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 RCV001863876 SCV002119521 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 phenylalanine with leucine at codon 48 of the B4GAT1 protein (p.Phe48Leu). The phenylalanine residue is moderately conserved and there is a small physicochemical difference between phenylalanine and leucine. This variant is present in population databases (rs756392214, ExAC 0.004%). 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The leucine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. 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.
PreventionGenetics, part of Exact Sciences RCV004746466 SCV005364500 uncertain significance B4GAT1-related disorder 2024-06-12 no assertion criteria provided clinical testing The B4GAT1 c.144C>A variant is predicted to result in the amino acid substitution p.Phe48Leu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0033% of alleles in individuals of Latino descent in gnomAD. 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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