Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV001004168 | SCV001162954 | likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | criteria provided, single submitter | clinical testing | ||
Fulgent Genetics, |
RCV001004168 | SCV002810563 | likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | 2021-11-23 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002549234 | SCV003285689 | pathogenic | not provided | 2023-11-04 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Glu776*) 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 present in population databases (rs758615834, gnomAD 0.01%). 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: 813358). For these reasons, this variant has been classified as Pathogenic. |