Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001213935 | SCV001385595 | pathogenic | not provided | 2024-01-03 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gly1050Argfs*4) 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). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This premature translational stop signal has been observed in individual(s) with clinical features of French Canadian type Leigh syndrome (PMID: 26510951). ClinVar contains an entry for this variant (Variation ID: 218169). For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV000202391 | SCV004191074 | pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | 2023-07-13 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000202391 | SCV000257426 | pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | 2015-12-01 | no assertion criteria provided | literature only |