ClinVar Miner

Submissions for variant NM_006766.5(KAT6A):c.4980del (p.Gln1660fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV003985159 SCV004801461 pathogenic Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome 2021-08-05 criteria provided, single submitter clinical testing The KAT6A c.4980delG p.(Gln1660HisfsTer48) causes a shift in the protein reading frame that is predicted to result in premature termination of the protein. This variant occurs in the last exon of the gene and the resulting transcript may escape nonsense-mediated mRNA decay (Kennedy et al. 2018). To our knowledge, this variant has not been reported in the peer-reviewed literature. This variant is not observed in version 2.1.1 or version 3.1.2 of the Genome Aggregation Database. This variant is predicted to disrupt the C-terminal serine/methionine rich domain of the protein, which is known to interact with several transcription factors including Runx2 (Wiesel-Motiuk et al. 2020). The variant was identified in a de novo state in the proband. Based on the collective evidence, the c.4980delG p.(Gln1660HisfsTer48) variant it is classified as pathogenic for KAT6A syndrome.

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