ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.1314G>A (p.Trp438Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003466324 SCV004209936 likely pathogenic Mucopolysaccharidosis type 6 2023-02-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003466324 SCV004547986 pathogenic Mucopolysaccharidosis type 6 2023-06-14 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the ARSB protein in which other variant(s) (p.Cys521Tyr) have been determined to be pathogenic (PMID: 8116615, 10923267, 24373060). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This variant has not been reported in the literature in individuals affected with ARSB-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp438*) in the ARSB gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 96 amino acid(s) of the ARSB protein.

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