ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.1060_1061del (p.Leu354fs)

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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 RCV003013449 SCV003303746 pathogenic Mucopolysaccharidosis type 6 2022-10-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu354Alafs*28) 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 (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ARSB-related conditions. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003013449 SCV004209837 likely pathogenic Mucopolysaccharidosis type 6 2024-01-24 criteria provided, single submitter clinical testing

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