ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.1577del (p.Thr526fs) (rs1554069660)

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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 RCV000677499 SCV000803009 pathogenic Mucopolysaccharidosis type 6 2018-01-01 criteria provided, single submitter curation Frameshift variant (PVS1); In vitro functional studies supportive of a damaging effect on the gene product (low to no ARSB activity in homozygotes; PS3); Absent from GnomAD (PM2)
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001268662 SCV001447753 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
Invitae RCV000677499 SCV001583435 pathogenic Mucopolysaccharidosis type 6 2020-08-30 criteria provided, single submitter clinical testing This sequence change results in a frameshift in the ARSB gene (p.Thr526Metfs*48). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 8 amino acids of the ARSB protein and extend the protein by an additional 39 amino acids. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with mucopolysaccharidosis type VI (PMID: 24677745, 8116615). ClinVar contains an entry for this variant (Variation ID: 559724). Experimental studies have shown that this variant affects ARSB protein function (PMID: 8116615). For these reasons, this variant has been classified as Pathogenic.

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