ClinVar Miner

Submissions for variant NM_024537.4(CARS2):c.2T>C (p.Met1Thr)

dbSNP: rs774110184
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000255570 SCV000321502 likely pathogenic not provided 2023-02-23 criteria provided, single submitter clinical testing Initiation codon variant in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 31371348)
Labcorp Genetics (formerly Invitae), Labcorp RCV001340732 SCV001534559 uncertain significance Combined oxidative phosphorylation defect type 27 2022-08-09 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the CARS2 mRNA. The next in-frame methionine is located at codon 114. This variant is not present in population databases (gnomAD no frequency). 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: 265071). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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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