Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, |
RCV000677463 | SCV000802970 | pathogenic | Mucopolysaccharidosis type 6 | 2018-01-01 | criteria provided, single submitter | curation | Nonsense variant (PVS1); Absent from GnomAD (PM2) |
Labcorp Genetics |
RCV000677463 | SCV003525876 | pathogenic | Mucopolysaccharidosis type 6 | 2022-03-11 | criteria provided, single submitter | clinical testing | This premature translational stop signal has been observed in individual(s) with mucopolysaccharidosis type VI (PMID: 25190157). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 559689). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser403*) 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). |