ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.571C>T (p.Arg191Ter) (rs371886102)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000579053 SCV000680500 pathogenic not provided 2017-11-01 criteria provided, single submitter clinical testing The R191X variant in the ARSB gene has been reported previously in the homozygous and the heterozygous state, in the presence of a second ARSB variant, in association with MPS VI (Karageorgos et al., 2007; Kılıç et al., 2017). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R191X variant is not observed in large population cohorts (Lek et al., 2016). We interpret R191X as a pathogenic variant.
Laboratory of Diagnosis and Therapy of Lysosomal Disorders,University of Padova RCV000677577 SCV000803093 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)
Invitae RCV000677577 SCV000933484 pathogenic Mucopolysaccharidosis type 6 2019-09-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg191*) in the ARSB gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several individuals affected with mucopolysaccharidosis type VI (PMID: 17161971, 25654180). ClinVar contains an entry for this variant (Variation ID: 488679). Loss-of-function variants in ARSB are known to be pathogenic (PMID: 17458871, 22133300). For these reasons, this variant has been classified as Pathogenic.

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