ClinVar Miner

Submissions for variant NM_017646.6(TRIT1):c.1204C>T (p.Arg402Ter)

dbSNP: rs367752391
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SIB Swiss Institute of Bioinformatics RCV000584729 SCV000883255 uncertain significance Combined oxidative phosphorylation deficiency 35 2018-10-15 criteria provided, single submitter curation This variant is interpreted as Uncertain Significance - Insufficient Evidence, for Combined oxidative phosphorylation deficiency 35, autosomal recessive. The following ACMG Tag(s) were applied: PM2 => Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium. PVS1-Moderate => PVS1 downgraded in strength to Moderate.
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences RCV000584729 SCV001981514 pathogenic Combined oxidative phosphorylation deficiency 35 criteria provided, single submitter clinical testing
GeneDx RCV001755719 SCV001985771 uncertain significance not provided 2021-04-15 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Nonsense variant predicted to result in protein truncation, although loss-of-function variants have not been reported downstream of this position in the protein; This variant is associated with the following publications: (PMID: 28185376)
Care4Rare-SOLVE, CHEO RCV000477659 SCV000564082 uncertain significance TRIT1 Deficiency no assertion criteria provided research This variant was seen in a heterozygous state with c.1256A>C.
OMIM RCV000584729 SCV000692461 pathogenic Combined oxidative phosphorylation deficiency 35 2018-02-16 no assertion criteria provided literature only

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