ClinVar Miner

Submissions for variant NM_012330.4(KAT6B):c.4066del (p.Glu1356fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV004536938 SCV004724356 pathogenic KAT6B-related disorder 2024-01-18 no assertion criteria provided clinical testing The KAT6B c.4066delG variant is predicted to result in a frameshift and premature protein termination (p.Glu1356Argfs*23). To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Frameshift variants in KAT6B are expected to be pathogenic. This variant is interpreted as pathogenic.

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