ClinVar Miner

Submissions for variant NM_012330.4(KAT6B):c.5807C>T (p.Ala1936Val)

dbSNP: rs2134253347
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001806623 SCV002050592 uncertain significance not provided 2021-06-26 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 27535533)
PreventionGenetics, part of Exact Sciences RCV004728823 SCV005340255 uncertain significance KAT6B-related disorder 2024-09-06 no assertion criteria provided clinical testing The KAT6B c.5807C>T variant is predicted to result in the amino acid substitution p.Ala1936Val. To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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