ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.797A>C (p.Tyr266Ser)

dbSNP: rs1554086402
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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 RCV000677597 SCV000803114 uncertain significance Mucopolysaccharidosis type 6 2018-01-01 criteria provided, single submitter curation Absent from GnomAD (PM2)
Invitae RCV000677597 SCV001586725 pathogenic Mucopolysaccharidosis type 6 2021-12-02 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with serine, which is neutral and polar, at codon 266 of the ARSB protein (p.Tyr266Ser). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with mucopolysaccharidosis type VI (PMID: 17458871, 22133300). ClinVar contains an entry for this variant (Variation ID: 559814). 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. For these reasons, this variant has been classified as Pathogenic.

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