Submissions for variant NM_015340.4(LARS2):c.2124T>C (p.Ser708=)

gnomAD frequency: 0.01189  dbSNP: rs34459812

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000215446	SCV000269210	benign	not specified	2014-11-24	criteria provided, single submitter	clinical testing	Ser708Ser in exon 18 of LARS2: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 4.1% (179/4406) of African American chromosomes from a broad population by the NHLBI Exome Sequenci ng Project (http://evs.gs.washington.edu/EVS; dbSNP rs34459812).
GeneDx	RCV000215446	SCV000520726	benign	not specified	2016-05-03	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.
Athena Diagnostics	RCV000676570	SCV000842635	benign	not provided	2018-05-25	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000676570	SCV001099915	benign	not provided	2025-01-30	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000676570	SCV004562812	benign	not provided	2023-11-06	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000676570	SCV005241183	benign	not provided		criteria provided, single submitter	not provided
Mayo Clinic Laboratories, Mayo Clinic	RCV000676570	SCV000802357	benign	not provided	2017-09-15	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003917868	SCV004728292	benign	LARS2-related disorder	2019-07-22	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).