Submissions for variant NM_001040436.3(YARS2):c.1026G>A (p.Arg342=)

gnomAD frequency: 0.02168  dbSNP: rs35339227

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000126349	SCV000169852	benign	not specified	2014-01-04	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.
Illumina Laboratory Services, Illumina	RCV000393673	SCV000378373	likely benign	Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000301319	SCV000378374	likely benign	Myopathy, lactic acidosis, and sideroblastic anemia 2	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000957055	SCV001103850	benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000301319	SCV002514067	benign	Myopathy, lactic acidosis, and sideroblastic anemia 2	2021-12-05	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000957055	SCV005216600	likely benign	not provided		criteria provided, single submitter	not provided
PreventionGenetics, part of Exact Sciences	RCV003915259	SCV004730587	benign	YARS2-related disorder	2019-05-08	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).