ClinVar Miner

Submissions for variant NM_012330.4(KAT6B):c.1637G>A (p.Gly546Glu)

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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 RCV004531611 SCV004109035 uncertain significance KAT6B-related disorder 2023-07-19 criteria provided, single submitter clinical testing The KAT6B c.1637G>A variant is predicted to result in the amino acid substitution p.Gly546Glu. 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. 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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