ClinVar Miner

Submissions for variant NM_006766.5(KAT6A):c.4254_4257del (p.Glu1419fs) (rs1057516049)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute RCV000408607 SCV000484451 pathogenic Mental retardation, autosomal dominant 32 2015-11-30 criteria provided, single submitter clinical testing This deletion of four nucleotides results in frameshift and premature truncation of the protein 12 residues downstream, NP_006757.2(KAT6A): p.(Glu1419Trpfs*12). This is a novel mutation, not present in disease or population databases. It occurs in the same domain as previously reported disease-causing mutations in this gene, and was found to be de novo in this patient.

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