ClinVar Miner

Submissions for variant NM_018486.3(HDAC8):c.937C>T (p.Arg313Ter)

dbSNP: rs1569316085
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000680271 SCV000747093 pathogenic Cornelia de Lange syndrome 5 2018-03-08 criteria provided, single submitter clinical testing
DASA RCV001813791 SCV002061295 pathogenic Cornelia de Lange syndrome 1 2022-01-05 criteria provided, single submitter clinical testing The c.937C>T;p.(Arg313*) variant creates a premature translational stop signal in the HDAC8 gene. It is expected to result in an absent or disrupted protein product -PVS1. This sequence change has been observed in affected individual(s) and ClinVar contains an entry for this variant (ClinVar ID: 523222; PMID: 30158690) - PS4. This variant is not present in population databases (rs1569316085, gnomAD; ABraOM no frequency - http://abraom.ib.usp.br/) - PM2. In summary, the currently available evidence indicates that the variant is pathogenic.
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV000680271 SCV005093817 pathogenic Cornelia de Lange syndrome 5 2024-08-05 criteria provided, single submitter clinical testing

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