ClinVar Miner

Submissions for variant NM_016628.5(WAC):c.451C>T (p.Arg151Ter)

dbSNP: rs886041614
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000263174 SCV000330310 pathogenic not provided 2022-12-08 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge
Laboratoire de Génétique Moléculaire, CHU Bordeaux RCV003148704 SCV003836721 pathogenic DeSanto-Shinawi syndrome due to WAC point mutation 2021-07-21 criteria provided, single submitter clinical testing
Service de Génétique Moléculaire, Hôpital Robert Debré RCV001256988 SCV001433534 likely pathogenic Rare genetic intellectual disability no assertion criteria provided clinical testing

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