ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.1558del (p.Arg520fs)

dbSNP: rs1160897474
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001380105 SCV001578051 pathogenic Mucopolysaccharidosis type 6 2020-01-30 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant results in an extension of the ARSB protein. Other variant(s) that result in a similarly extended protein product (p.Thr526Metfs*48) have been determined to be pathogenic (PMID: 8116615, 24677745). This suggests that these extensions are likely to be causative of disease. This variant has not been reported in the literature in individuals with ARSB-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change results in a frameshift in the ARSB gene (p.Arg520Alafs*54). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 14 amino acids of the ARSB protein and extend the protein by an additional 39 amino acids.

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