ClinVar Miner

Submissions for variant NM_006766.5(KAT6A):c.3070C>T (p.Arg1024Ter)

dbSNP: rs786200961
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000578941 SCV000680534 pathogenic not provided 2022-10-14 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: 30245513, 25728775, 31754438, 27133397)
CeGaT Center for Human Genetics Tuebingen RCV000578941 SCV001247734 pathogenic not provided 2019-02-01 criteria provided, single submitter clinical testing
UCLA Clinical Genomics Center, UCLA RCV000167547 SCV000196748 pathogenic Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome 2015-01-15 no assertion criteria provided clinical testing
OMIM RCV000167547 SCV000218422 pathogenic Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome 2015-03-05 no assertion criteria provided literature only
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes RCV000578941 SCV000778200 pathogenic not provided 2016-06-01 no assertion criteria provided clinical testing

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