ClinVar Miner

Submissions for variant NM_015340.4(LARS2):c.765G>A (p.Ala255=)

gnomAD frequency: 0.00466  dbSNP: rs116272561
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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 RCV000214270 SCV000269218 benign not specified 2014-11-24 criteria provided, single submitter clinical testing Ala255Ala in exon 9 of LARS2: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been identified in 1.5% (67/4406) of Af rican American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs116272561).
GeneDx RCV000756299 SCV000520682 likely benign not provided 2021-02-25 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756299 SCV000884068 benign not provided 2022-03-02 criteria provided, single submitter clinical testing
Invitae RCV000756299 SCV001115431 benign not provided 2024-01-02 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003907793 SCV004726586 benign LARS2-related condition 2019-09-23 criteria provided, single submitter 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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