ClinVar Miner

Submissions for variant NM_024537.4(CARS2):c.1631G>A (p.Ser544Asn)

gnomAD frequency: 0.00001  dbSNP: rs747870375
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001308808 SCV001498278 uncertain significance Combined oxidative phosphorylation defect type 27 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces serine with asparagine at codon 544 of the CARS2 protein (p.Ser544Asn). The serine residue is weakly conserved and there is a small physicochemical difference between serine and asparagine. This variant is present in population databases (rs747870375, ExAC 0.001%). This variant has not been reported in the literature in individuals affected with CARS2-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The asparagine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
GenomeConnect - Invitae Patient Insights Network RCV001308808 SCV001749781 not provided Combined oxidative phosphorylation defect type 27 no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 10-07-2020 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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