Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001387077 | SCV001587571 | pathogenic | not provided | 2023-02-14 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Tyr477*) 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: 1073935). For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV003469728 | SCV004191094 | pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | 2023-04-07 | criteria provided, single submitter | clinical testing |