Submissions for variant NM_024757.5(EHMT1):c.1061_1062del (p.Glu354fs)

dbSNP: rs1064796085

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000483329	SCV000572507	pathogenic	not provided	2017-01-10	criteria provided, single submitter	clinical testing	The c.1061_1062delAG variant in the EHMT1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.1061_1062delAG variant causes a frameshift starting with codon Glutamic acid 354, changes this amino acid to a Glycine residue, and creates a premature Stop codon at position 32 of the new reading frame, denoted p.Glu354GlyfsX32. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.1061_1062delAG variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.1061_1062delAG as a pathogenic variant.
CeGaT Center for Human Genetics Tuebingen	RCV000483329	SCV001248991	pathogenic	not provided	2019-03-01	criteria provided, single submitter	clinical testing
Baylor Genetics	RCV001333219	SCV001525741	pathogenic	Kleefstra syndrome 1	2018-06-21	criteria provided, single submitter	clinical testing	This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].