ClinVar Miner

Submissions for variant NM_024537.4(CARS2):c.1632C>A (p.Ser544Arg)

gnomAD frequency: 0.00297  dbSNP: rs141184379
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000524838 SCV000655866 likely benign Combined oxidative phosphorylation defect type 27 2024-01-27 criteria provided, single submitter clinical testing
Baylor Genetics RCV000524838 SCV001524875 uncertain significance Combined oxidative phosphorylation defect type 27 2019-09-06 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV001584347 SCV001820228 likely benign not provided 2020-05-18 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003403336 SCV004122282 uncertain significance not specified 2023-10-27 criteria provided, single submitter clinical testing Variant summary: CARS2 c.1632C>A (p.Ser544Arg) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.00065 in 251442 control chromosomes, predominantly at a frequency of 0.0087 within the African or African-American subpopulation in the gnomAD database. To our knowledge, c.1632C>A has not been reported in the literature in individuals affected with Combined Oxidative Phosphorylation Defect Type 27 and no experimental evidence demonstrating an impact on protein function has been reported. The following publication has been ascertained in the context of this evaluation (PMID: 26257172). Three submitters have cited clinical-significance assessments for this variant to ClinVar after 2014, classifying the variant as uncertain significance (n=1) or likely benign (n=2). Based on the evidence outlined above, the variant was classified as uncertain significance.
PreventionGenetics, part of Exact Sciences RCV003925718 SCV004737730 benign CARS2-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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