ClinVar Miner

Submissions for variant NM_006766.5(KAT6A):c.3824_3828del (p.Glu1275fs)

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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 RCV003985245 SCV004801630 pathogenic Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome 2018-11-15 criteria provided, single submitter clinical testing The KAT6A c.3824_3828delAGAAG p.(Glu1275AlafsTer36) variant causes a shift in the protein reading frame that is predicted to result in premature termination of the protein. Loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay is expected. To our knowledge, this variant has not been reported in the peer-reviewed literature. This variant resides in the acidic domain of the KAT6A gene in which recurrent truncating variants have been reported (Kennedy et al. 2018). This variant is not observed in version 2.1.1 of the Genome Aggregation Database. The variant was identified in a de novo state in the proband. Based on the available evidence, the c.3824_3828delAGAAG p.(Glu1275AlafsTer36) variant is classified as pathogenic for KAT6A syndrome.

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