ClinVar Miner

Submissions for variant NM_005198.5(CHKB):c.150C>A (p.Tyr50Ter)

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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 RCV002510642 SCV002820138 likely pathogenic Megaconial type congenital muscular dystrophy criteria provided, single submitter clinical testing The variant c.150C>A in CHKB (NM_005198.4) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. Null variant (nonsense), in gene CHKB for which loss-of-function is a known mechanism of disease. The nucleotide change in CHKB is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Likely Pathogenic.

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