ClinVar Miner

Submissions for variant NM_017646.6(TRIT1):c.856A>G (p.Lys286Glu)

gnomAD frequency: 0.00001  dbSNP: rs1060505019
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SIB Swiss Institute of Bioinformatics RCV000584735 SCV000883187 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. PP3 => Multiple lines of computational evidence support a deleterious effect on the gene or gene product. PM3 => For recessive disorders, detected in trans with a pathogenic variant (https://www.ncbi.nlm.nih.gov/pubmed/28185376).
Care4Rare-SOLVE, CHEO RCV000477660 SCV000564083 uncertain significance TRIT1 Deficiency no assertion criteria provided research This variant was seen in a heterozygous state with c.22C>T.
OMIM RCV000584735 SCV000692462 pathogenic Combined oxidative phosphorylation deficiency 35 2018-02-16 no assertion criteria provided literature only

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