ClinVar Miner

Submissions for variant NM_152490.5(B3GALNT2):c.1177C>T (p.Arg393Ter)

dbSNP: rs1300792331
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001780726 SCV002025095 pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 2020-04-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001780726 SCV004454083 pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 2023-12-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg393*) in the B3GALNT2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in B3GALNT2 are known to be pathogenic (PMID: 23453667). 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 variant has not been reported in the literature in individuals affected with B3GALNT2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1324021). For these reasons, this variant has been classified as Pathogenic.

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