ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.6640G>A (p.Ala2214Thr)

gnomAD frequency: 0.00001  dbSNP: rs587783724
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000146223 SCV000193463 uncertain significance Kabuki syndrome 1 2014-01-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001857514 SCV002208958 benign Kabuki syndrome 2023-11-07 criteria provided, single submitter clinical testing
New York Genome Center RCV000146223 SCV002564308 uncertain significance Kabuki syndrome 1 2021-09-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004758649 SCV005363324 uncertain significance KMT2D-related disorder 2024-08-30 no assertion criteria provided clinical testing The KMT2D c.6640G>A variant is predicted to result in the amino acid substitution p.Ala2214Thr. This variant was reported in an individual with Kabuki syndrome in a meta-analysis of KMT2D missense variants (Supplemental Table S3-1, Faundes et al. 2019. PubMed ID: 30459467). This variant is reported in 0.0024% 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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