ClinVar Miner

Submissions for variant NM_017646.6(TRIT1):c.848T>G (p.Ile283Ser)

gnomAD frequency: 0.00004  dbSNP: rs199622789
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SIB Swiss Institute of Bioinformatics RCV000584739 SCV000883293 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: PP3 => Multiple lines of computational evidence support a deleterious effect on the gene or gene product. PM2 => Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium.
GeneDx RCV002285336 SCV002575266 likely pathogenic not provided 2023-08-27 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 35418828, 28185376, 36047296)
Care4Rare-SOLVE, CHEO RCV000477657 SCV000564081 uncertain significance TRIT1 Deficiency no assertion criteria provided research This variant was seen in a heterozygous state with c.1256A>C.
OMIM RCV000584739 SCV000692460 pathogenic Combined oxidative phosphorylation deficiency 35 2018-02-16 no assertion criteria provided literature only

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