Submissions for variant NM_001083614.2(EARS2):c.280A>G (p.Met94Val)

gnomAD frequency: 0.00019  dbSNP: rs200139797

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000726575	SCV000345629	uncertain significance	not provided	2016-08-26	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000367728	SCV000396066	likely benign	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
GeneDx	RCV000284636	SCV000512920	likely benign	not specified	2015-09-28	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae	RCV000726575	SCV001090024	likely benign	not provided	2023-06-13	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003957523	SCV004770693	likely benign	EARS2-related condition	2023-04-12	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).