ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.1142+2T>A

dbSNP: rs781510986
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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 RCV000677453 SCV000802956 likely pathogenic Mucopolysaccharidosis type 6 2018-01-01 criteria provided, single submitter curation Splicing variant in canonical site (PVS1); Absent from GnomAD (PM2)
Invitae RCV000677453 SCV003525798 pathogenic Mucopolysaccharidosis type 6 2022-02-24 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Studies have shown that disruption of this splice site results in skipping of exon 5 and introduces a premature termination codon (PMID: 17643332). The resulting mRNA is expected to undergo nonsense-mediated decay. ClinVar contains an entry for this variant (Variation ID: 559679). Disruption of this splice site has been observed in individual(s) with mucopolysaccharidosis type VI (PMID: 17643332). This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 5 of the ARSB gene. RNA analysis indicates that disruption of this splice site induces altered splicing and may result in an absent or disrupted protein product.

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