ClinVar Miner

Submissions for variant NM_025150.5(TARS2):c.1285C>T (p.Arg429Ter)

gnomAD frequency: 0.00004  dbSNP: rs1382181446
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002568859 SCV003515446 uncertain significance not provided 2022-01-16 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 1174008). This variant has not been reported in the literature in individuals affected with TARS2-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change creates a premature translational stop signal (p.Arg429*) in the TARS2 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 TARS2 cause disease.
GeneDx RCV002568859 SCV005685862 pathogenic not provided 2024-07-24 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 significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 37454282, 36218002, 34508595)
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet RCV001527460 SCV001738510 likely pathogenic Combined oxidative phosphorylation defect type 21 no assertion criteria provided clinical testing
OMIM RCV001527460 SCV002098047 pathogenic Combined oxidative phosphorylation defect type 21 2024-04-01 no assertion criteria provided literature only

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