ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.823G>T (p.Glu275Ter)

dbSNP: rs1580121683
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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 RCV000798762 SCV000938393 pathogenic Mucopolysaccharidosis type 6 2022-04-14 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with ARSB-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu275*) 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). ClinVar contains an entry for this variant (Variation ID: 644772). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000798762 SCV005055520 likely pathogenic Mucopolysaccharidosis type 6 2024-02-26 criteria provided, single submitter clinical testing

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