ClinVar Miner

Submissions for variant NM_152490.5(B3GALNT2):c.266T>C (p.Leu89Pro)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003340839 SCV004047606 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 criteria provided, single submitter clinical testing The missense variant c.266T>C (p.Leu89Pro) in B3GALNT2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Asn541Asp variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. This variant has not been reported to the ClinVar database. The amino acid Leu at position 89 is changed to a Pro changing protein sequence and it might alter its composition and physico-chemical properties. The amino acid change p.Leu89Pro in B3GALNT2 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance (VUS).

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