ClinVar Miner

Submissions for variant NM_015340.4(LARS2):c.2307C>T (p.Ser769=)

gnomAD frequency: 0.00280  dbSNP: rs143838895
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Total submissions: 5
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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 RCV000220812 SCV000269214 benign not specified 2014-11-24 criteria provided, single submitter clinical testing Ser769Ser 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 1.2% (51/4406) of A frican American chromosomes from a broad population by the NHLBI Exome Sequencin g Project (http://evs.gs.washington.edu/EVS; dbSNP rs143838895).
GeneDx RCV000969009 SCV000527597 likely benign not provided 2021-06-29 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000220812 SCV000859351 benign not specified 2018-02-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000969009 SCV001116500 benign not provided 2025-01-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003917869 SCV004733886 benign LARS2-related disorder 2020-12-14 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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