ClinVar Miner

Submissions for variant NM_025150.5(TARS2):c.326G>A (p.Arg109Gln)

gnomAD frequency: 0.00001  dbSNP: rs760526545
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University RCV000761523 SCV000891655 uncertain significance Combined oxidative phosphorylation defect type 21 2017-12-30 criteria provided, single submitter curation
Ambry Genetics RCV002533868 SCV003617455 uncertain significance Inborn genetic diseases 2022-04-28 criteria provided, single submitter clinical testing The c.326G>A (p.R109Q) alteration is located in exon 3 (coding exon 3) of the TARS2 gene. This alteration results from a G to A substitution at nucleotide position 326, causing the arginine (R) at amino acid position 109 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Houlden Lab, UCL Institute of Neurology RCV000761523 SCV003035494 likely pathogenic Combined oxidative phosphorylation defect type 21 no assertion criteria provided research

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