Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, |
RCV000677528 | SCV000803039 | pathogenic | Mucopolysaccharidosis type 6 | 2018-01-01 | criteria provided, single submitter | curation | Nonsense variant (PVS1); Absent from Gnomad (PM2); Reputable source identifies as pathogenic (PP5) |
Fulgent Genetics, |
RCV000677528 | SCV002807598 | pathogenic | Mucopolysaccharidosis type 6 | 2022-05-02 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000677528 | SCV004209347 | pathogenic | Mucopolysaccharidosis type 6 | 2023-06-19 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000677528 | SCV004293562 | pathogenic | Mucopolysaccharidosis type 6 | 2023-04-25 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 559752). This premature translational stop signal has been observed in individual(s) with ARSB-related conditions (PMID: 24875751). This sequence change creates a premature translational stop signal (p.Gln88*) 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). |