Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000255358 | SCV000321410 | likely pathogenic | not provided | 2025-01-15 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 19006241, 24508627, 28111830, 25087612, 25433810, 35665479, 35726796, 32778825, 14680976) |
Labcorp Genetics |
RCV001376643 | SCV000630066 | pathogenic | Citrullinemia | 2024-01-21 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 307 of the ASS1 protein (p.Arg307Cys). This variant is present in population databases (rs183276875, gnomAD 0.03%). This missense change has been observed in individual(s) with citrullinemia (PMID: 14680976; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 265044). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on ASS1 protein function. For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV000558661 | SCV001163595 | pathogenic | Citrullinemia type I | 2024-03-14 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000558661 | SCV001653431 | likely pathogenic | Citrullinemia type I | 2021-05-18 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000558661 | SCV002776531 | likely pathogenic | Citrullinemia type I | 2021-11-12 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000558661 | SCV003825145 | uncertain significance | Citrullinemia type I | 2022-04-26 | criteria provided, single submitter | clinical testing |