ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.206C>T (p.Thr69Met)

dbSNP: rs1554032175
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova RCV000677511 SCV000803021 uncertain significance Mucopolysaccharidosis type 6 2018-01-01 criteria provided, single submitter curation Absent from GnomAD (PM2);
Invitae RCV000677511 SCV002276990 likely pathogenic Mucopolysaccharidosis type 6 2021-10-24 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 69 of the ARSB protein (p.Thr69Met). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely 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: 559736). This missense change has been observed in individual(s) with mucopolysaccharidosis type VI (PMID: 19968667). This variant is not present in population databases (gnomAD no frequency).

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