Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000670107 | SCV000794923 | likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | 2017-10-19 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003708549 | SCV004477541 | pathogenic | not provided | 2024-01-18 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Trp85*) 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 (no rsID available, gnomAD 0.0009%). 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: 554468). For these reasons, this variant has been classified as Pathogenic. |