Submissions for variant NM_003482.4(KMT2D):c.5821A>G (p.Met1941Val)

gnomAD frequency: 0.00005  dbSNP: rs372271746

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001555441	SCV001776861	likely benign	not provided	2019-12-27	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV001821879	SCV002070331	benign	not specified	2020-07-21	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002072074	SCV002495400	likely benign	Kabuki syndrome	2023-12-10	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV001555441	SCV004235943	uncertain significance	not provided	2023-11-07	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004758811	SCV005351241	uncertain significance	KMT2D-related disorder	2024-08-05	no assertion criteria provided	clinical testing	The KMT2D c.5821A>G variant is predicted to result in the amino acid substitution p.Met1941Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.032% 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.