ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.979C>T (p.Arg327Ter)

dbSNP: rs773492223
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Total submissions: 6
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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 RCV000677617 SCV000803135 pathogenic Mucopolysaccharidosis type 6 2018-01-01 criteria provided, single submitter curation Nonsense variant (PVS1); 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 ExAc (PM2); Reputable source identifies as pathogenic (PP5)
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota RCV000677617 SCV000891256 pathogenic Mucopolysaccharidosis type 6 2018-10-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000677617 SCV002234824 pathogenic Mucopolysaccharidosis type 6 2023-12-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg327*) in the ARSB gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ARSB are known to be pathogenic (PMID: 17458871, 22133300). This variant is present in population databases (no rsID available, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with mucopolysaccharidosis type VI (PMID: 14974081, 23557332). ClinVar contains an entry for this variant (Variation ID: 559832). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV000677617 SCV002788798 pathogenic Mucopolysaccharidosis type 6 2021-08-06 criteria provided, single submitter clinical testing
Baylor Genetics RCV000677617 SCV004210014 pathogenic Mucopolysaccharidosis type 6 2022-10-15 criteria provided, single submitter clinical testing
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University RCV000677617 SCV000891628 pathogenic Mucopolysaccharidosis type 6 2017-12-30 no assertion criteria provided curation

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