ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.173del (p.Asn58fs)

dbSNP: rs1180759765
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001384500 SCV001584011 pathogenic Mucopolysaccharidosis type 6 2021-08-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn58Thrfs*56) in the ARSB gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ARSB are known to be pathogenic (PMID: 17458871, 22133300). This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with ARSB-related conditions. ClinVar contains an entry for this variant (Variation ID: 1071912). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV001384500 SCV004209848 likely pathogenic Mucopolysaccharidosis type 6 2023-12-02 criteria provided, single submitter clinical testing

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