ClinVar Miner

Submissions for variant NM_006766.5(KAT6A):c.932G>A (p.Arg311Gln)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002996859 SCV003313859 likely benign not provided 2022-07-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV005351069 SCV006023108 uncertain significance Inborn genetic diseases 2025-01-22 criteria provided, single submitter clinical testing The c.932G>A (p.R311Q) alteration is located in exon 6 (coding exon 5) of the KAT6A gene. This alteration results from a G to A substitution at nucleotide position 932, causing the arginine (R) at amino acid position 311 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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