ClinVar Miner

Submissions for variant NM_006766.5(KAT6A):c.1903-5_1903-2del

dbSNP: rs1587727050
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego RCV000853382 SCV000996257 pathogenic Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome 2019-03-01 criteria provided, single submitter clinical testing This variant has not been previously reported or functionally characterized in the literature to our knowledge. It is absent from the ExAC and gnomAD population databases and thus is presumed to be rare. Multiple splice prediction tools suggest this variant is likely to interfere with normal splicing. Analysis of the parental samples was negative for the variant, indicating this variant likely occurred as a de novo event. Based on the available evidence, the c.1903-5_1903-2del variant is classified as pathogenic.

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