ClinVar Miner

Submissions for variant NC_000001.11:g.(?_235465599)_(235465734_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000651080 SCV000772930 pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 2019-07-12 criteria provided, single submitter clinical testing This variant is an out-of-frame deletion of the genomic region encompassing exon 7 of the B3GALNT2 gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with B3GALNT2-related disease. 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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