ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.376G>T (p.Glu126Ter)

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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 RCV002829759 SCV003214522 pathogenic Mucopolysaccharidosis type 6 2022-07-04 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with mucopolysaccharidosis type VI (PMID: 22133300). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu126*) 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).

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