ClinVar Miner

Submissions for variant NM_152490.5(B3GALNT2):c.448C>T (p.Arg150Ter)

gnomAD frequency: 0.00001  dbSNP: rs1282726649
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000702068 SCV000830902 pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 2017-10-27 criteria provided, single submitter clinical testing Loss-of-function variants in B3GALNT2 are known to be pathogenic (PMID: 23453667). This variant has not been reported in the literature in individuals with B3GALNT2-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Arg150*) in the B3GALNT2 gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000702068 SCV002520457 pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 2022-04-21 no assertion criteria provided literature only

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