Submissions for variant NM_003482.4(KMT2D):c.9602dup (p.Ser3202fs)

dbSNP: rs1555190375

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000483539	SCV000573795	pathogenic	not provided	2017-02-23	criteria provided, single submitter	clinical testing	The c.9602dupT pathogenic variant in the KMT2D gene causes a frameshift starting with codon Serine 3202, changes this amino acid to a Glutamic acid residue and creates a premature Stop codon at position 13 of the new reading frame, denoted p.Ser3202GlufsX13. This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). Although this pathogenic variant has not been previously reported to our knowledge, its presence is consistent with the diagnosis of Kabuki syndrome in this individual.
Sbielas Lab-Department of Human Genetics University of Michigan, University of Michigan Medical School	RCV000578199	SCV000680057	pathogenic	Kabuki syndrome 1	2017-10-27	no assertion criteria provided	research
University of Washington Center for Mendelian Genomics, University of Washington	RCV001034583	SCV001197963	likely pathogenic	CHARGE syndrome		no assertion criteria provided	research