Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Revvity Omics, |
RCV000985226 | SCV002024373 | likely pathogenic | Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome | 2021-02-02 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001858616 | SCV002241486 | pathogenic | not provided | 2023-11-03 | criteria provided, single submitter | clinical testing | This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 398 of the ASNS protein (p.Tyr398Cys). This variant is present in population databases (no rsID available, gnomAD 0.002%). This missense change has been observed in individuals with clinical features of asparagine synthetase deficiency (PMID: 25227173, 25663424, 27422383). It has also been observed to segregate with disease in related individuals. This variant is also known as p.Tyr315Cys and p.Tyr377Cys. ClinVar contains an entry for this variant (Variation ID: 800997). 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 ASNS protein function with a positive predictive value of 80%. For these reasons, this variant has been classified as Pathogenic. |
Biochemical Molecular Genetic Laboratory, |
RCV000985226 | SCV001133258 | uncertain significance | Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome | 2019-09-26 | no assertion criteria provided | clinical testing |