ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.1534_1556del (p.Val512fs)

dbSNP: rs1310996698
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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 RCV000677496 SCV000803006 uncertain significance Mucopolysaccharidosis type 6 2018-01-01 criteria provided, single submitter curation Absent from GnomAD (PM2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000677496 SCV001623154 pathogenic Mucopolysaccharidosis type 6 2021-05-13 criteria provided, single submitter clinical testing Variant summary: ARSB c.1534_1556del23 (p.Val512ProfsX3) 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 allele was found at a frequency of 4e-06 in 251598 control chromosomes (gnomAD and publication data). c.1534_1556del23 has been reported in the literature in multiple individuals affected with Mucopolysaccharidosis Type VI (Maroteaux-Lamy Syndrome), including two homozygotes (Petry_2003, Petry_2005, Karageorgos_2007, Giraldo_2015). These data indicate that the variant is very likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. One ClinVar submitter (evaluation after 2014) cites the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as pathogenic.
Mendelics RCV000677496 SCV002518521 pathogenic Mucopolysaccharidosis type 6 2022-05-04 criteria provided, single submitter clinical testing

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