Submissions for variant NM_024757.5(EHMT1):c.82G>C (p.Glu28Gln)

dbSNP: rs1342402816

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001217725	SCV001389576	benign	Kleefstra syndrome 1	2024-01-24	criteria provided, single submitter	clinical testing
GeneDx	RCV001773485	SCV001992745	uncertain significance	not provided	2019-06-21	criteria provided, single submitter	clinical testing	Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
AiLife Diagnostics, AiLife Diagnostics	RCV001773485	SCV002501443	uncertain significance	not provided	2021-06-05	criteria provided, single submitter	clinical testing
Mendelics	RCV002249809	SCV002519175	benign	not specified	2022-05-04	criteria provided, single submitter	clinical testing
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	RCV002252332	SCV002523334	uncertain significance	See cases	2019-11-01	criteria provided, single submitter	clinical testing	ACMG classification criteria: PM2
Ambry Genetics	RCV004978125	SCV005576863	uncertain significance	Inborn genetic diseases	2024-11-15	criteria provided, single submitter	clinical testing	The c.82G>C (p.E28Q) alteration is located in exon 2 (coding exon 2) of the EHMT1 gene. This alteration results from a G to C substitution at nucleotide position 82, causing the glutamic acid (E) at amino acid position 28 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.