ClinVar Miner

Submissions for variant NM_006766.5(KAT6A):c.3055C>T (p.Arg1019Ter)

dbSNP: rs1554680902
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000579331 SCV000681073 pathogenic not provided 2019-10-12 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 (Lek et al., 2016); This variant is associated with the following publications: (PMID: 30245513)
Klinisk genetik och genomik Research, Gothenburg University RCV003447148 SCV004174843 likely pathogenic Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome 2023-11-09 criteria provided, single submitter research Syndromic multiple suture craniosynostosis

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