ClinVar Miner

Submissions for variant NM_012330.4(KAT6B):c.4738C>G (p.Gln1580Glu)

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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 RCV004529772 SCV004109830 uncertain significance KAT6B-related disorder 2023-02-23 criteria provided, single submitter clinical testing The KAT6B c.4738C>G variant is predicted to result in the amino acid substitution p.Gln1580Glu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0062% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/10-76789320-C-G). 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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