ClinVar Miner

Submissions for variant NM_006766.5(KAT6A):c.931C>T (p.Arg311Ter)

dbSNP: rs1064793721
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000485166 SCV000566863 pathogenic not provided 2015-06-08 criteria provided, single submitter clinical testing The R311X variant in the KAT6A gene has not been reported previously as a pathogenic variant nor as a benign polymorphism, to our knowledge. The R311X variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. We interpret R311X as a pathogenic variant.
Baylor Genetics RCV001329629 SCV001521121 pathogenic Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome 2019-09-06 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].

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