Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001853125 | SCV002113873 | pathogenic | not provided | 2023-01-09 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 212735). This variant has not been reported in the literature in individuals affected with LRPPRC-related conditions. This variant is present in population databases (rs797044605, gnomAD 0.007%). This sequence change creates a premature translational stop signal (p.His1096Thrfs*7) 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). |
Knight Diagnostic Laboratories, |
RCV000194544 | SCV000223935 | likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | 2014-09-08 | no assertion criteria provided | clinical testing |