Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV000006375 | SCV001163571 | pathogenic | Neonatal intrahepatic cholestasis due to citrin deficiency | criteria provided, single submitter | clinical testing | ||
Invitae | RCV001060497 | SCV001225190 | pathogenic | Citrin deficiency | 2023-04-15 | criteria provided, single submitter | clinical testing | This variant is present in population databases (rs80338726, gnomAD 0.02%). For these reasons, this variant has been classified as Pathogenic. This variant disrupts the C-terminus of the SLC25A13 protein. Other variant(s) that disrupt this region (p.Arg605*, p.Glu601*) have been observed in individuals with SLC25A13-related conditions (PMID: 11153906, 11793471). This suggests that this may be a clinically significant region of the protein. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 6006). This variant is also known as Mutation VI, 1800ins1. This premature translational stop signal has been observed in individuals with citrin deficiency (PMID: 11153906, 11343052). This sequence change creates a premature translational stop signal (p.Tyr600*) in the SLC25A13 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 76 amino acid(s) of the SLC25A13 protein. |
Baylor Genetics | RCV003472984 | SCV004201635 | pathogenic | Citrullinemia, type II, adult-onset | 2023-05-13 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000006374 | SCV000026556 | pathogenic | Citrullinemia type II | 2001-05-01 | no assertion criteria provided | literature only | |
OMIM | RCV000006375 | SCV000026557 | pathogenic | Neonatal intrahepatic cholestasis due to citrin deficiency | 2001-05-01 | no assertion criteria provided | literature only | |
Gene |
RCV000006374 | SCV000041256 | not provided | Citrullinemia type II | no assertion provided | literature only | ||
Natera, |
RCV001831516 | SCV002079361 | pathogenic | Citrullinemia | 2020-09-16 | no assertion criteria provided | clinical testing |