ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.1418G>A (p.Trp473Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002800495 SCV003020899 pathogenic Mucopolysaccharidosis type 6 2022-06-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp473*) in the ARSB gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 61 amino acid(s) of the ARSB protein. This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with mucopolysaccharidosis type VI (PMID: 17458871). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This variant disrupts a region of the ARSB protein in which other variant(s) (p.Tyr513*) have been determined to be pathogenic (PMID: 10923267, 26909334). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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