Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000667860 | SCV000792371 | likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | 2017-06-15 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000667860 | SCV001162956 | likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | criteria provided, single submitter | clinical testing | ||
Invitae | RCV003698807 | SCV004459623 | pathogenic | not provided | 2023-06-17 | 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: 552573). 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.Gln538*) 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). |