Total submissions: 5
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]. |
Gene |
RCV001584347 | SCV001820228 | likely benign | not provided | 2020-05-18 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
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. |
Prevention |
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). |