Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV000006703 | SCV001163216 | likely pathogenic | Citrullinemia type I | criteria provided, single submitter | clinical testing | ||
Invitae | RCV002512847 | SCV003441465 | pathogenic | Citrullinemia | 2024-01-16 | criteria provided, single submitter | clinical testing | This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 18 of the ASS1 protein (p.Ser18Leu). This variant is present in population databases (rs121908643, gnomAD 0.006%). This missense change has been observed in individual(s) with clinical features of ASS1-related conditions (PMID: 1943692, 31208364; Invitae). ClinVar contains an entry for this variant (Variation ID: 6331). 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 ASS1 protein function with a positive predictive value of 80%. For these reasons, this variant has been classified as Pathogenic. |
OMIM | RCV000006703 | SCV000026894 | pathogenic | Citrullinemia type I | 1991-02-01 | no assertion criteria provided | literature only | |
Counsyl | RCV000006703 | SCV000800552 | uncertain significance | Citrullinemia type I | 2017-06-13 | flagged submission | clinical testing |