ClinVar Miner

Submissions for variant NM_012330.4(KAT6B):c.1800CTC[3] (p.Ser605del)

dbSNP: rs1564600378
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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 RCV004527761 SCV004109366 uncertain significance KAT6B-related disorder 2023-01-25 criteria provided, single submitter clinical testing The KAT6B c.1809_1811delCTC variant is predicted to result in an in-frame deletion (p.Ser605del). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.00088% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/10-76735894-ACTC-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Gharavi Laboratory, Columbia University RCV000722236 SCV000853367 uncertain significance not provided 2018-09-16 no assertion criteria provided research

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