ClinVar Miner

Submissions for variant NM_006876.3(B4GAT1):c.89T>C (p.Leu30Pro)

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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 RCV003005670 SCV003301349 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 2022-01-26 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with B4GAT1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 30 of the B4GAT1 protein (p.Leu30Pro). 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: "Deleterious"; 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.

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