ClinVar Miner

Submissions for variant NM_006766.5(KAT6A):c.3386G>A (p.Arg1129Gln)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003133782 SCV003813943 uncertain significance Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome 2019-08-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003396907 SCV004110901 uncertain significance KAT6A-related disorder 2024-06-14 no assertion criteria provided clinical testing The KAT6A c.3386G>A variant is predicted to result in the amino acid substitution p.Arg1129Gln. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.00090% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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