ClinVar Miner

Submissions for variant NM_152490.5(B3GALNT2):c.779T>A (p.Leu260Ter)

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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 RCV003445306 SCV004171838 likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 criteria provided, single submitter clinical testing The stop gain c.779T>A (p.Leu260Ter) variant in B3GALNT2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.779T>A variant is novel (not in any individuals) in both gnomAD Exomes and 1000 Genomes databases. This variant has not been reported to the ClinVar database. The nucleotide change c.779T>A in B3GALNT2 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. This variant is predicted to cause loss of normal protein function through protein truncation. Loss of function variants have been previously reported to be disease causing. Additional studies will be required to prove the pathogenicity of this variant. For these reasons, this variant has been classified as Likely Pathogenic.

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