Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, |
RCV000677447 | SCV000802950 | likely pathogenic | Mucopolysaccharidosis type 6 | 2018-01-01 | criteria provided, single submitter | curation | Frameshift variant(PVS1); Absent from GnomAD (PM2) |
Baylor Genetics | RCV000677447 | SCV004202301 | likely pathogenic | Mucopolysaccharidosis type 6 | 2022-03-22 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000677447 | SCV004293565 | pathogenic | Mucopolysaccharidosis type 6 | 2023-09-22 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 559673). This premature translational stop signal has been observed in individual(s) with mucopolysaccharidosis type VI (PMID: 17458871). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser37Profs*15) 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). |