ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.1130G>A (p.Trp377Ter) (rs1554079265)

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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 RCV000677451 SCV000802954 likely pathogenic Mucopolysaccharidosis type 6 2018-01-01 criteria provided, single submitter curation Nonsense variant (PVS1); Absent from GnomAD (PM2)
Invitae RCV000677451 SCV001377701 pathogenic Mucopolysaccharidosis type 6 2019-06-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp377*) 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 individuals affected with mucopolysaccharidosis type VI (PMID: 17458871). ClinVar contains an entry for this variant (Variation ID: 559677). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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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