ClinVar Miner

Submissions for variant NM_015340.4(LARS2):c.2358A>G (p.Val786=)

gnomAD frequency: 0.87505  dbSNP: rs267220
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000223098 SCV000269215 benign not specified 2014-11-24 criteria provided, single submitter clinical testing Val786Val in exon 20 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 38.2% (1681/4406) o f African American chromosomes from a broad population by the NHLBI Exome Sequen cing Project (http://evs.gs.washington.edu/EVS; dbSNP rs267220).
PreventionGenetics, part of Exact Sciences RCV000223098 SCV000312540 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000223098 SCV000517602 benign not specified 2015-12-02 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.
Genome-Nilou Lab RCV001730599 SCV001981307 benign Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome 2021-08-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001730598 SCV001981308 benign Perrault syndrome 4 2021-08-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000676572 SCV002402661 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000676572 SCV005241188 benign not provided criteria provided, single submitter not provided
Mayo Clinic Laboratories, Mayo Clinic RCV000676572 SCV000802359 benign not provided 2016-02-16 no assertion criteria provided clinical testing

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