ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.12893C>T (p.Thr4298Ile)

gnomAD frequency: 0.00004  dbSNP: rs377128722
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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 RCV001905374 SCV002133973 benign Kabuki syndrome 2023-04-07 criteria provided, single submitter clinical testing
GeneDx RCV002222734 SCV002499965 uncertain significance not provided 2021-10-14 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences RCV004758832 SCV005366268 uncertain significance KMT2D-related disorder 2024-04-15 no assertion criteria provided clinical testing The KMT2D c.12893C>T variant is predicted to result in the amino acid substitution p.Thr4298Ile. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0084% of alleles in individuals of African descent in gnomAD. Although we suspect that this variant may be benign, 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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