ClinVar Miner

Submissions for variant NM_006766.5(KAT6A):c.3505C>T (p.Arg1169Ter) (rs886042000)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Miraca Genetics Laboratories, RCV000415399 SCV000328731 likely pathogenic Mental retardation, autosomal dominant 32 2015-05-23 no assertion criteria provided clinical testing Our laboratory reported dual molecular diagnoses in KAT6A (NM_001099412.1, c.3505C>T) and 16p11.2 deletion in one individual with reported features of hypotonia, failure to thrive, congenital pancytopenia and thrombocytopenia. KAT6A variant was paternally inherited from father with history of congenital anemia and cardiomegaly.
GeneDx RCV000302843 SCV000330826 pathogenic not provided 2017-10-23 criteria provided, single submitter clinical testing The R1169X pathogenic variant in the KAT6A gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function through protein truncation. The R1169X variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret R1169X as a pathogenic variant.

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