ClinVar Miner

Submissions for variant NM_001673.5(ASNS):c.1193A>G (p.Tyr398Cys)

dbSNP: rs1166271142
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV000985226 SCV002024373 likely pathogenic Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome 2021-02-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp 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, King Abdulaziz Medical City RCV000985226 SCV001133258 uncertain significance Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome 2019-09-26 no assertion criteria provided clinical testing

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