ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.262C>T (p.Gln88Ter)

gnomAD frequency: 0.00001  dbSNP: rs1299207831
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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 RCV000677528 SCV000803039 pathogenic Mucopolysaccharidosis type 6 2018-01-01 criteria provided, single submitter curation Nonsense variant (PVS1); Absent from Gnomad (PM2); Reputable source identifies as pathogenic (PP5)
Fulgent Genetics, Fulgent Genetics RCV000677528 SCV002807598 pathogenic Mucopolysaccharidosis type 6 2022-05-02 criteria provided, single submitter clinical testing
Baylor Genetics RCV000677528 SCV004209347 pathogenic Mucopolysaccharidosis type 6 2023-06-19 criteria provided, single submitter clinical testing
Invitae RCV000677528 SCV004293562 pathogenic Mucopolysaccharidosis type 6 2023-04-25 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 559752). This premature translational stop signal has been observed in individual(s) with ARSB-related conditions (PMID: 24875751). This sequence change creates a premature translational stop signal (p.Gln88*) 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).

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