ClinVar Miner

Submissions for variant NM_012330.4(KAT6B):c.2557T>C (p.Tyr853His)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV004529763 SCV004107378 uncertain significance KAT6B-related disorder 2023-08-14 criteria provided, single submitter clinical testing The KAT6B c.2557T>C variant is predicted to result in the amino acid substitution p.Tyr853His. 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.
Fulgent Genetics, Fulgent Genetics RCV005047562 SCV005675758 uncertain significance Genitopatellar syndrome; Blepharophimosis - intellectual disability syndrome, SBBYS type 2024-02-03 criteria provided, single submitter clinical testing

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