Submissions for variant NM_014297.5(ETHE1):c.79C>A (p.Gln27Lys)

dbSNP: rs749803238

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Core Molecular Diagnostic Lab, McGill University Health Centre	RCV000755051	SCV000882825	pathogenic	Ethylmalonic encephalopathy	2019-02-12	criteria provided, single submitter	clinical testing
GeneDx	RCV001557377	SCV001779130	likely pathogenic	not provided	2017-06-13	criteria provided, single submitter	clinical testing	Not observed at a significant frequency in large population cohorts (Lek et al., 2016; McVean et al., 2012; Exome Variant Server); In silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect; This variant is associated with the following publications: (PMID: 30349987, 19289697)
Baylor Genetics	RCV000755051	SCV004192688	likely pathogenic	Ethylmalonic encephalopathy	2024-03-21	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001557377	SCV005329778	likely pathogenic	not provided	2024-08-01	criteria provided, single submitter	clinical testing	ETHE1: PM3:Strong, PM2, PP3, PP4
Natera, Inc.	RCV000755051	SCV002088909	likely pathogenic	Ethylmalonic encephalopathy	2020-09-03	no assertion criteria provided	clinical testing
OMIM	RCV000755051	SCV005375484	pathogenic	Ethylmalonic encephalopathy	2024-10-22	no assertion criteria provided	literature only