ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.1366C>T (p.Gln456Ter)

gnomAD frequency: 0.00001  dbSNP: rs200188234
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova RCV000677483 SCV000802992 pathogenic Mucopolysaccharidosis type 6 2018-01-01 criteria provided, single submitter curation Nonsense variant (PVS1); Very low frequency in ExAC (PM2); Classified as pathogenic by a reputable source (PP5)
Labcorp Genetics (formerly Invitae), Labcorp RCV000677483 SCV003514461 pathogenic Mucopolysaccharidosis type 6 2023-04-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln456*) in the ARSB gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 78 amino acid(s) of the ARSB protein. For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 559709). This premature translational stop signal has been observed in individual(s) with mucopolysaccharidosis type VI (PMID: 10206678, 17458871). This variant is present in population databases (rs200188234, gnomAD 0.002%).
Baylor Genetics RCV000677483 SCV004206705 pathogenic Mucopolysaccharidosis type 6 2023-10-18 criteria provided, single submitter clinical testing

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