Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV001844744 | SCV002104040 | likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | 2022-02-23 | criteria provided, single submitter | clinical testing | Variant summary: LRPPRC c.2441_2444delCTCT (p.Thr814LysfsX3) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been reported in affected individuals (HGMD). The variant was absent in 251294 control chromosomes (gnomAD). To our knowledge, no occurrence of c.2441_2444delCTCT in individuals affected with Leigh Syndrome, French-Canadian Type and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic. |
| Labcorp Genetics |
RCV002543335 | SCV003339983 | pathogenic | not provided | 2024-12-19 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Thr814Lysfs*3) in the LRPPRC gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in LRPPRC are known to be pathogenic (PMID: 26510951). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with LRPPRC-related conditions. ClinVar contains an entry for this variant (Variation ID: 1343727). For these reasons, this variant has been classified as Pathogenic. |