ClinVar Miner

Submissions for variant NM_018486.3(HDAC8):c.496C>T (p.Arg166Ter)

dbSNP: rs886041936
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000302320 SCV000330743 pathogenic not provided 2023-07-21 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 at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 15146186, 24403048, 22889856, 22885700, 15146185, 26671848)
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000415456 SCV000492935 pathogenic Global developmental delay; Fetal growth restriction; Abnormal facial shape; Delayed speech and language development; Microcephaly; Sparse scalp hair 2014-08-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000624895 SCV000741437 pathogenic Inborn genetic diseases 2016-04-01 criteria provided, single submitter clinical testing
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn RCV000856789 SCV000999347 pathogenic Cornelia de Lange syndrome 1 criteria provided, single submitter clinical testing
Molecular Genetics laboratory, Necker Hospital RCV000302320 SCV004031280 pathogenic not provided 2021-12-16 no assertion criteria provided clinical testing

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