ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.237_243del (p.Val80fs)

dbSNP: rs1554032134
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Total submissions: 3
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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 RCV000677520 SCV000803030 likely pathogenic Mucopolysaccharidosis type 6 2018-01-01 criteria provided, single submitter curation Frameshift variant(PVS1); Absent from GnomAD (PM2)
Labcorp Genetics (formerly Invitae), Labcorp RCV000677520 SCV003525801 pathogenic Mucopolysaccharidosis type 6 2024-01-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val80Trpfs*32) 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 not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with mucopolysaccharidosis type VI (PMID: 8125475). ClinVar contains an entry for this variant (Variation ID: 559744). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000677520 SCV004202289 pathogenic Mucopolysaccharidosis type 6 2022-05-31 criteria provided, single submitter clinical testing

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