ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.620T>A (p.Met207Lys)

gnomAD frequency: 0.00001  dbSNP: rs757625928
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001756802 SCV001995017 uncertain significance not provided 2019-10-28 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV003753195 SCV004528915 likely benign Kabuki syndrome 2023-05-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004758826 SCV005365273 uncertain significance KMT2D-related disorder 2024-09-12 no assertion criteria provided clinical testing The KMT2D c.620T>A variant is predicted to result in the amino acid substitution p.Met207Lys. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0027% of alleles in individuals of European (Non-Finnish) descent in gnomAD. 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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