Submissions for variant NM_003482.4(KMT2D):c.13606C>T (p.Arg4536Ter)

dbSNP: rs587783692

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000146170	SCV000193395	pathogenic	Kabuki syndrome 1	2013-02-08	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000724642	SCV000230508	pathogenic	not provided	2015-02-26	criteria provided, single submitter	clinical testing
Invitae	RCV000549081	SCV000636639	pathogenic	Kabuki syndrome	2022-05-01	criteria provided, single submitter	clinical testing	For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 158731). This premature translational stop signal has been observed in individual(s) with Kabuki syndrome (PMID: 20711175, 27302555). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg4536*) in the KMT2D gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in KMT2D are known to be pathogenic (PMID: 22126750).
Center for Human Genetics, Inc, Center for Human Genetics, Inc	RCV000146170	SCV000781666	pathogenic	Kabuki syndrome 1	2016-11-01	criteria provided, single submitter	clinical testing
Autoinflammatory diseases unit, CHU de Montpellier	RCV000146170	SCV001438135	pathogenic	Kabuki syndrome 1	2014-02-03	no assertion criteria provided	clinical testing