ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.289C>T (p.Gln97Ter)

dbSNP: rs1554032094
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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 RCV000677538 SCV000803051 likely pathogenic Mucopolysaccharidosis type 6 2018-01-01 criteria provided, single submitter curation Nonsense variant (PVS1); Absent from GnomAD (PM2)
Labcorp Genetics (formerly Invitae), Labcorp RCV000677538 SCV004293561 pathogenic Mucopolysaccharidosis type 6 2023-03-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln97*) 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). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 559762). This premature translational stop signal has been observed in individual(s) with mucopolysaccharidosis type VI (PMID: 14974081). This variant is not present in population databases (gnomAD no frequency).

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