Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000665443 | SCV000789569 | likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | 2017-02-14 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000665443 | SCV001162957 | likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | criteria provided, single submitter | clinical testing | ||
Invitae | RCV002530656 | SCV002987244 | pathogenic | not provided | 2023-03-03 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ser530*) 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 (rs775735922, 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: 550645). For these reasons, this variant has been classified as Pathogenic. |