Submissions for variant NM_002437.5(MPV17):c.27G>T (p.Arg9=)

gnomAD frequency: 0.00420  dbSNP: rs35244252

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000175725	SCV000227262	benign	not specified	2014-11-24	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000313755	SCV000429736	benign	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)	2018-01-13	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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Laboratory Services, Illumina	RCV000363815	SCV000429737	uncertain significance	Mitochondrial DNA depletion syndrome	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000175725	SCV000513645	benign	not specified	2016-12-27	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000903706	SCV001048186	benign	not provided	2024-01-30	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV000313755	SCV001462530	benign	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)	2020-09-16	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004539630	SCV004768040	benign	MPV17-related disorder	2020-05-20	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).