Submissions for variant NM_001040436.3(YARS2):c.572G>T (p.Gly191Val)

gnomAD frequency: 0.14334  dbSNP: rs11539445

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000377688	SCV000378387	likely benign	Myopathy, lactic acidosis, and sideroblastic anemia	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000280875	SCV000378388	benign	Myopathy, lactic acidosis, and sideroblastic anemia 2	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.
GeneDx	RCV000676970	SCV001847401	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 30026338, 29300242, 26647310, 24344687)
Invitae	RCV000676970	SCV002376720	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000280875	SCV002514068	benign	Myopathy, lactic acidosis, and sideroblastic anemia 2	2021-12-05	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000676970	SCV000802797	benign	not provided	2016-02-22	no assertion criteria provided	clinical testing