ClinVar Miner

Submissions for variant NM_006766.5(KAT6A):c.3061dup (p.Arg1021fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003447896 SCV004175846 uncertain significance Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome 2023-02-14 criteria provided, single submitter clinical testing The frameshift c.3061dup (p.Arg1021LysfsTer11) variant has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Arg1021LysfsTer11 variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. This variant has not been reported to the ClinVar database. Loss of function variants have been previously reported to be disease causing. However since this variant is present in the penultimate exon, functional studies will be required to prove protein truncation. Hence the variant is classified as Variant of Uncertain Significance (VUS).

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