ClinVar Miner

Submissions for variant NM_012330.4(KAT6B):c.2008A>G (p.Ile670Val)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002765389 SCV003017667 benign Genitopatellar syndrome 2024-11-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004719012 SCV005315889 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV004741326 SCV005362020 uncertain significance KAT6B-related disorder 2024-08-24 no assertion criteria provided clinical testing The KAT6B c.2008A>G variant is predicted to result in the amino acid substitution p.Ile670Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0054% of alleles in individuals of European (Non-Finnish) descent in gnomAD. Although we suspect that this variant may be benign, the clinical significance of this variant is classified as uncertain at this time due to insufficient functional and genetic evidence.

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