ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.1601A>C (p.Ter534Ser)

dbSNP: rs1554069655
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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 RCV001059056 SCV001223660 likely pathogenic Mucopolysaccharidosis type 6 2020-10-07 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This variant results in an extension of the ARSB protein. Other variant(s) that result in a similarly extended protein product (p.*534Glnext*50 and p.*534Trpext*50, also known as p.*534W) have been observed in individuals with ARSB-related conditions (PMID: 8144552, 26909334, 30524696). This suggests that these extensions may be clinically significant. 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.*534Serext*50). While this is not anticipated to result in nonsense mediated decay, it is expected to replace the original stop signal with a serine residue and extend the ARSB protein by an additional 49 amino acids.

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