ClinVar Miner

Submissions for variant NM_006876.3(B4GAT1):c.2T>C (p.Met1Thr)

dbSNP: rs1855240969
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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 RCV001964759 SCV002200800 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 2022-05-27 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change affects the initiator methionine of the B4GAT1 mRNA. The next in-frame methionine is located at codon 3. This variant has not been reported in the literature in individuals affected with B4GAT1-related conditions. 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown.

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