ClinVar Miner

Submissions for variant NM_006876.3(B4GAT1):c.37C>T (p.Gln13Ter)

gnomAD frequency: 0.00001  dbSNP: rs767082700
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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 RCV000687619 SCV000815198 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 2022-10-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln13*) in the B4GAT1 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in B4GAT1 cause disease. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This premature translational stop signal has been observed in individual(s) with clinical features of B4GAT1-related conditions (Invitae). ClinVar contains an entry for this variant (Variation ID: 567512). 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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