ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.1433del (p.Asp478fs)

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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 RCV003600622 SCV004380325 pathogenic Mucopolysaccharidosis type 6 2023-11-07 criteria provided, single submitter clinical testing This sequence change results in a frameshift in the ARSB gene (p.Asp478Valfs*96). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 56 amino acid(s) of the ARSB protein and extend the protein by 39 additional amino acid residues. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ARSB-related conditions. This variant disrupts a region of the ARSB protein in which other variant(s) (p.Pro481Leu) have been determined to be pathogenic (PMID: 15979036). 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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