ClinVar Miner

Submissions for variant NM_025150.5(TARS2):c.1036C>T (p.Arg346Cys)

gnomAD frequency: 0.00001  dbSNP: rs749476185
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes RCV001375012 SCV001572300 uncertain significance Neurodevelopmental disorder 2021-03-31 criteria provided, single submitter clinical testing
Neuberg Centre For Genomic Medicine, NCGM RCV003315448 SCV004047157 uncertain significance Combined oxidative phosphorylation defect type 21 criteria provided, single submitter clinical testing The c.1036C>T (p.Arg346Cys) missense variant in TARS2 gene has been submitted to ClinVar as a Variant of Uncertain Significance (VUS), but no details are available for independent assessment. It has not been reported in affected individuals. This variant is reported with the allele frequency (0.0003%) in the gnomad and novel in 1000 genome database. The amino acid Arg at position 346 is changed to a Cys changing protein sequence and it might alter its composition and physico-chemical properties. The amino acid change p.Arg346Cys in TARS2 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Variant of Uncertain Significance (VUS).
Houlden Lab, UCL Institute of Neurology RCV003315448 SCV003035495 likely pathogenic Combined oxidative phosphorylation defect type 21 no assertion criteria provided research

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