Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000179764 | SCV000232067 | likely pathogenic | not provided | 2013-01-30 | criteria provided, single submitter | clinical testing | |
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, |
RCV001578303 | SCV001547773 | likely pathogenic | Mucopolysaccharidosis, MPS-IV-A | 2021-02-01 | criteria provided, single submitter | research | The prevalence of the variant in affected individuals is significantly increased compared with the prevalence in controls (PS4_strong); very low frequency in gnomAD v2.1.1 (PM2_moderate); multiple lines of computational evidence support a deleterious effect on the gene (PP3_supporting) |
Ce |
RCV000179764 | SCV002498201 | likely pathogenic | not provided | 2022-01-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001578303 | SCV003518821 | pathogenic | Mucopolysaccharidosis, MPS-IV-A | 2023-03-18 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. 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 GALNS protein function. ClinVar contains an entry for this variant (Variation ID: 93184). This missense change has been observed in individual(s) with clinical features of mucopolysaccharidosis IVA (PMID: 24726177, 32993725, 34387910). This variant is present in population databases (rs398123440, gnomAD 0.0009%). This sequence change replaces threonine, which is neutral and polar, with lysine, which is basic and polar, at codon 235 of the GALNS protein (p.Thr235Lys). |