ClinVar Miner

Submissions for variant NM_006766.5(KAT6A):c.4361dup (p.Thr1455fs)

dbSNP: rs1554679835
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000483243 SCV000567466 pathogenic not provided 2015-08-22 criteria provided, single submitter clinical testing The c.4361dupA duplication in the KAT6A gene has not been reported previously as a pathogenic variantnor as a benign polymorphism, to our knowledge. The c.4361dupA duplication causes a frameshift starting withcodon Threonine 1455, changes this amino acid to an Aspartic acid residue, and creates a premature stopcodon at position 9 of the new reading frame, denoted p.Thr1455AspfsX9. This variant is predicted tocause loss of normal protein function through protein truncation and is expected to alter the normal structureand function of the resultant protein. The c.4361dupA duplication was not observed in approximately 6,500individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating itis not a common benign variant in these populations. We interpret c.4361dupA as a pathogenic variant.

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