Submissions for variant NM_003482.4(KMT2D):c.12229C>T (p.Leu4077Phe)

gnomAD frequency: 0.00003  dbSNP: rs774148221

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001343260	SCV001537229	benign	Kabuki syndrome	2023-08-17	criteria provided, single submitter	clinical testing
GeneDx	RCV001587362	SCV001817141	likely benign	not provided	2020-04-01	criteria provided, single submitter	clinical testing
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn	RCV001843586	SCV002103077	uncertain significance	Kabuki syndrome 1	2022-01-26	criteria provided, single submitter	clinical testing	BS2
PreventionGenetics, part of Exact Sciences	RCV004528471	SCV004105753	uncertain significance	KMT2D-related disorder	2023-04-03	criteria provided, single submitter	clinical testing	The KMT2D c.12229C>T variant is predicted to result in the amino acid substitution p.Leu4077Phe. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0081% of alleles in individuals of South Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/12-49426259-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
CeGaT Center for Human Genetics Tuebingen	RCV001587362	SCV004700981	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	KMT2D: BP4