ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.753C>G (p.Tyr251Ter) (rs765711776)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000579253 SCV000680732 pathogenic not provided 2018-01-26 criteria provided, single submitter clinical testing The Y251X nonsense variant in the ARSB gene has been reported previously in association with MPSVI and is a common pathogenic variant identified in individuals from the Al-Hofuf area in Saudi Arabia (Sillence et al., 2012; Al-Sannaa et al., 2018). This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay.
Laboratory of Diagnosis and Therapy of Lysosomal Disorders,University of Padova RCV000677594 SCV000803111 pathogenic Mucopolysaccharidosis type VI 2018-01-01 criteria provided, single submitter curation Nonsense 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); Reputable source identifies as pathogenic (PP5)
Invitae RCV000677594 SCV000937682 pathogenic Mucopolysaccharidosis type VI 2018-08-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr251*) 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 an individual affected with mucopolysaccharidosis type VI (PMID: 23430861). ClinVar contains an entry for this variant (Variation ID: 488822). Loss-of-function variants in ARSB are known to be pathogenic (PMID: 17458871, 22133300). For these reasons, this variant has been classified as Pathogenic.
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City RCV000677594 SCV001133218 pathogenic Mucopolysaccharidosis type VI 2019-09-26 no assertion criteria provided clinical testing

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