Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, |
RCV000677586 | SCV000803103 | uncertain significance | Mucopolysaccharidosis type 6 | 2018-01-01 | criteria provided, single submitter | curation | Absent from GnomAD (PM2); Reputable source identifies as pathogenic (PP5) |
Invitae | RCV000677586 | SCV001586726 | pathogenic | Mucopolysaccharidosis type 6 | 2023-07-25 | criteria provided, single submitter | clinical testing | This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 236 of the ARSB protein (p.Leu236Pro). This variant is not present in population databases (gnomAD no frequency). 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 ARSB protein function. ClinVar contains an entry for this variant (Variation ID: 879). This missense change has been observed in individual(s) with mucopolysaccharidosis type VI (PMID: 1550123, 14974081). |
OMIM | RCV000000927 | SCV000021077 | pathogenic | Mucopolysaccharidosis, type vi, mild | 1992-04-01 | no assertion criteria provided | literature only |