ClinVar Miner

Submissions for variant NM_152490.5(B3GALNT2):c.199C>T (p.Arg67Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001050601 SCV001214716 pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 2019-02-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg67*) in the B3GALNT2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with B3GALNT2-related conditions. Loss-of-function variants in B3GALNT2 are known to be pathogenic (PMID: 23453667). For these reasons, this variant has been classified as Pathogenic.

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