ClinVar Miner

Submissions for variant NM_152490.5(B3GALNT2):c.815C>T (p.Ala272Val) (rs1558417340)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Broad Institute Rare Disease Group,Broad Institute RCV000785900 SCV000924476 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 2018-06-15 criteria provided, single submitter research The homozygous p.Ala272Val variant was identified by our study in two siblings with muscular dystrophy-dystroglycanopathy. This variant was absent from large population studies. The Alanine (Ala) at position 272 is highly conserved in mammals and evolutionarily distant species, raising the possibility that a change at this position may not be tolerated. Computational prediction tools do not provide strong support for or against an impact to the protein. In summary, the clinical significance of this variant is uncertain.

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