Submissions for variant NM_024757.5(EHMT1):c.3046C>T (p.Arg1016Ter)

dbSNP: rs1429360126

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000686881	SCV000814421	pathogenic	Kleefstra syndrome 1	2018-01-13	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Arg1016*) in the EHMT1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with EHMT1-related disease. Loss-of-function variants in EHMT1 are known to be pathogenic (PMID: 16826528, 19264732). For these reasons, this variant has been classified as Pathogenic.
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet	RCV000686881	SCV002505742	pathogenic	Kleefstra syndrome 1	2021-08-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002547107	SCV003549764	pathogenic	Inborn genetic diseases	2020-07-21	criteria provided, single submitter	clinical testing	The c.3046C>T (p.R1016*) alteration, located in coding exon 21 of the EHMT1 gene, results from a C to T substitution at nucleotide position 3046. This changes the amino acid from an arginine (R) to a stop codon at amino acid position 1016. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. Based on the available evidence, this alteration is classified as pathogenic.
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001724136	SCV001953654	pathogenic	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001724136	SCV001974328	pathogenic	not provided		no assertion criteria provided	clinical testing