ClinVar Miner

Submissions for variant NM_152490.5(B3GALNT2):c.763-1G>A

dbSNP: rs780433836
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000679935 SCV000807369 pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 2017-09-01 criteria provided, single submitter clinical testing This intronic mutation is categorized as deleterious according to ACMG guidelines (PMID:18414213). It was found once in our laboratory in trans with a missense mutation in a 2-year-old male with global delays, suspected Walker-Warburg muscular dystrophy, hypotonia, contractures, lissencephaly, hypdrocephalus, epliepsy, optic nerve hypoplasia, dysplastic retina, cataract, high myopia, undescended testicles, suspected panhypopituitarism.

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