Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000666673 | SCV000791003 | likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | 2017-10-09 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003767951 | SCV004655549 | pathogenic | not provided | 2023-01-21 | 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: 551574). This variant has not been reported in the literature in individuals affected with LRPPRC-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu399Lysfs*28) 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). |