ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.349T>C (p.Cys117Arg)

gnomAD frequency: 0.00001  dbSNP: rs118203939
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Total submissions: 4
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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 RCV000677550 SCV000803063 likely pathogenic Mucopolysaccharidosis type 6 2018-01-01 criteria provided, single submitter curation In vitro functional studies supportive of a damaging effect on the gene product (low to no ARSB activity in homozygotes; PS3); Very low frequency in GnomAD (PM2); Reputable source identifies as pathogenic (PP5)
Invitae RCV000677550 SCV002149371 pathogenic Mucopolysaccharidosis type 6 2023-08-23 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 ARSB protein function. ClinVar contains an entry for this variant (Variation ID: 878). This missense change has been observed in individual(s) with mucopolysaccharidosis type VI (PMID: 1550123, 17458871). This variant is present in population databases (rs118203939, gnomAD 0.002%). This sequence change replaces cysteine, which is neutral and slightly polar, with arginine, which is basic and polar, at codon 117 of the ARSB protein (p.Cys117Arg).
Baylor Genetics RCV000677550 SCV004202345 pathogenic Mucopolysaccharidosis type 6 2021-11-08 criteria provided, single submitter clinical testing
OMIM RCV000000926 SCV000021076 pathogenic Mucopolysaccharidosis, type vi, severe 1992-04-01 no assertion criteria provided literature only

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