ClinVar Miner

Submissions for variant NM_015340.4(LARS2):c.2602G>A (p.Glu868Lys)

gnomAD frequency: 0.00260  dbSNP: rs34965084
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000766548 SCV000526652 likely benign not provided 2021-06-25 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 19847392)
Eurofins Ntd Llc (ga) RCV000433645 SCV000707710 likely benign not specified 2017-04-28 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000433645 SCV000711483 benign not specified 2014-11-24 criteria provided, single submitter clinical testing Glu868Lys in exon 22 of LARS2: This variant is not expected to have clinical sig nificance because it has been identified in 1.0% (42/4406) of African American c hromosomes from a broad population by the NHLBI Exome Sequencing Project (http:/ /evs.gs.washington.edu/EVS; dbSNP rs34965084).
Labcorp Genetics (formerly Invitae), Labcorp RCV000766548 SCV001099917 likely benign not provided 2025-01-21 criteria provided, single submitter clinical testing
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital RCV001731681 SCV001984442 likely benign Perrault syndrome 4 2020-07-23 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000766548 SCV004154334 likely benign not provided 2022-09-01 criteria provided, single submitter clinical testing LARS2: BP4, BS1
Breakthrough Genomics, Breakthrough Genomics RCV000766548 SCV005260795 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003972637 SCV004790306 benign LARS2-related disorder 2019-09-04 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).

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