Submissions for variant NM_024757.5(EHMT1):c.3848A>C (p.Glu1283Ala)

gnomAD frequency: 0.00009  dbSNP: rs398124408

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000082237	SCV000114186	uncertain significance	not provided	2013-07-11	criteria provided, single submitter	clinical testing
Invitae	RCV000395808	SCV000814350	benign	Kleefstra syndrome 1	2024-01-29	criteria provided, single submitter	clinical testing
GeneDx	RCV000082237	SCV001792497	likely benign	not provided	2018-10-26	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 28492532)
Ambry Genetics	RCV002362732	SCV002623604	uncertain significance	Inborn genetic diseases	2018-02-27	criteria provided, single submitter	clinical testing	The p.E1283A variant (also known as c.3848A>C), located in coding exon 27 of the EHMT1 gene, results from an A to C substitution at nucleotide position 3848. The glutamic acid at codon 1283 is replaced by alanine, an amino acid with dissimilar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity	RCV000395808	SCV004237831	likely benign	Kleefstra syndrome 1	2023-11-15	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000082237	SCV004701483	likely benign	not provided	2023-12-01	criteria provided, single submitter	clinical testing	EHMT1: BS1