ClinVar Miner

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

dbSNP: 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)
Labcorp Genetics (formerly Invitae), Labcorp RCV000677451 SCV001377701 pathogenic Mucopolysaccharidosis type 6 2021-12-20 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). 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. Loss-of-function variants in ARSB are known to be pathogenic (PMID: 17458871, 22133300). This premature translational stop signal has been observed in individuals with mucopolysaccharidosis type VI (PMID: 17458871). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 559677).

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