Submissions for variant NM_003482.4(KMT2D):c.4395dup (p.Lys1466fs)

dbSNP: rs1555195118

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center for Human Genetics, Inc, Center for Human Genetics, Inc	RCV000659718	SCV000781566	likely pathogenic	Kabuki syndrome 1	2016-11-01	criteria provided, single submitter	clinical testing
Invitae	RCV001233752	SCV001406361	pathogenic	Kabuki syndrome	2019-07-18	criteria provided, single submitter	clinical testing	This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in KMT2D are known to be pathogenic (PMID: 22126750). This variant has been observed in an individual with clinical features of Kabuki syndrome (PMID: 25896430). ClinVar contains an entry for this variant (Variation ID: 547421). This sequence change creates a premature translational stop signal (p.Lys1466Glnfs*25) in the KMT2D gene. It is expected to result in an absent or disrupted protein product.
Laboratory of Medical Genetics, University of Torino	RCV000659718	SCV004171085	pathogenic	Kabuki syndrome 1		criteria provided, single submitter	clinical testing
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province	RCV000659718	SCV004847178	pathogenic	Kabuki syndrome 1	2023-02-01	criteria provided, single submitter	clinical testing