ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.1394C>G (p.Ser465Ter)

dbSNP: rs1209412483
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Total submissions: 2
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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 RCV000677485 SCV000802994 likely pathogenic Mucopolysaccharidosis type 6 2018-01-01 criteria provided, single submitter curation Nonsense variant (PVS1); Absent from GnomAD (PM2)
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000677485 SCV001431914 likely pathogenic Mucopolysaccharidosis type 6 2020-08-23 criteria provided, single submitter clinical testing Variant summary: ARSB c.1394C>G (p.Ser465X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant was absent in 251428 control chromosomes. c.1394C>G has been reported in the literature in at least one individual affected with Mucopolysaccharidosis Type VI (Maroteaux-Lamy Syndrome; Lim_2008). These data do not allow any conclusion about variant significance. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation and cited the variant as likely pathogenic. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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