Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000728351 | SCV000855909 | uncertain significance | not provided | 2017-07-26 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001267011 | SCV001445192 | likely pathogenic | Inborn genetic diseases | 2018-02-19 | criteria provided, single submitter | clinical testing | |
Genesolutions, |
RCV002508184 | SCV002546535 | pathogenic | Neonatal intrahepatic cholestasis due to citrin deficiency | 2022-06-30 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003581555 | SCV004277027 | likely pathogenic | Citrin deficiency | 2023-04-06 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 6007). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This variant disrupts the p.Arg588 amino acid residue in SLC25A13. Other variant(s) that disrupt this residue have been observed in individuals with SLC25A13-related conditions (PMID: 27829683), which suggests that this may be a clinically significant amino acid residue. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. Experimental studies have shown that this missense change affects SLC25A13 function (PMID: 18367750). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt SLC25A13 protein function. This missense change has been observed in individual(s) with citrin deficiency (PMID: 18392553, 36599957). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is present in population databases (rs121908532, gnomAD 0.006%). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 588 of the SLC25A13 protein (p.Arg588Gln). |
OMIM | RCV000006376 | SCV000026558 | pathogenic | Citrullinemia type II | 2008-03-27 | no assertion criteria provided | literature only | |
Natera, |
RCV001831517 | SCV002079362 | likely pathogenic | Citrullinemia | 2021-04-01 | no assertion criteria provided | clinical testing |