Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003062525 | SCV003441108 | pathogenic | Mucopolysaccharidosis, MPS-III-D | 2022-12-21 | 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 GNS protein function. This missense change has been observed in individual(s) with clinical features of mucopolysaccharidosis type IIID (PMID: 20232353, 34349725). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 340 of the GNS protein (p.Lys340Arg). |
Pediatric/Medical Genetics, |
RCV003062525 | SCV004190119 | likely pathogenic | Mucopolysaccharidosis, MPS-III-D | criteria provided, single submitter | clinical testing |