ClinVar Miner

Submissions for variant NM_006766.5(KAT6A):c.856C>T (p.Arg286Ter)

dbSNP: rs1564038539
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV000735235 SCV000863444 pathogenic Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome 2018-07-13 criteria provided, single submitter clinical testing
GeneDx RCV002509527 SCV002818777 pathogenic not provided 2022-07-05 criteria provided, single submitter clinical testing Identified in an individual with a neurodevelopmental disorder, but segregation and detailed clinical information was not provided (Wang et al., 2020); 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: 33004838)

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