ClinVar Miner

Submissions for variant NM_024537.4(CARS2):c.1084C>T (p.Gln362Ter)

gnomAD frequency: 0.00001  dbSNP: rs1439475292
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001555782 SCV001777249 likely pathogenic not provided 2023-07-08 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at a significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV002032613 SCV002142892 uncertain significance Combined oxidative phosphorylation defect type 27 2021-08-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln362*) in the CARS2 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in CARS2 cause disease. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with CARS2-related conditions. 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.

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