ClinVar Miner

Submissions for variant NM_024537.4(CARS2):c.1609G>A (p.Gly537Ser)

gnomAD frequency: 0.00008  dbSNP: rs777503937
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001221561 SCV001393616 uncertain significance Combined oxidative phosphorylation defect type 27 2022-10-17 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 537 of the CARS2 protein (p.Gly537Ser). This variant is present in population databases (rs777503937, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with CARS2-related conditions. ClinVar contains an entry for this variant (Variation ID: 949962). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt CARS2 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.
Fulgent Genetics, Fulgent Genetics RCV001221561 SCV002814768 uncertain significance Combined oxidative phosphorylation defect type 27 2022-04-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV002562529 SCV003601097 uncertain significance Inborn genetic diseases 2024-03-18 criteria provided, single submitter clinical testing The c.1609G>A (p.G537S) alteration is located in exon 14 (coding exon 14) of the CARS2 gene. This alteration results from a G to A substitution at nucleotide position 1609, causing the glycine (G) at amino acid position 537 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV003222261 SCV003918240 uncertain significance not provided 2022-10-13 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Breakthrough Genomics, Breakthrough Genomics RCV003222261 SCV005192224 uncertain significance not provided criteria provided, single submitter not provided

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