Total submissions: 4
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. |
Gene |
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- |
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 |