Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000519216 | SCV000621921 | pathogenic | not provided | 2017-10-26 | criteria provided, single submitter | clinical testing | The c.123_139dup17 variant in the ARSB gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.123_139dup17 variant causes a frameshift starting with codon Leucine 47, changes this amino acid to a Proline residue, and creates a premature Stop codon at position 15 of the new reading frame, denoted p.Leu47ProfsX15. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.123_139dup17 variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.123_139dup17 as a pathogenic variant. |
| Invitae | RCV001853699 | SCV002230932 | pathogenic | Mucopolysaccharidosis type 6 | 2022-09-12 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 453065). This variant has not been reported in the literature in individuals affected with ARSB-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Leu47Profs*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). |
| Baylor Genetics | RCV001853699 | SCV004202323 | likely pathogenic | Mucopolysaccharidosis type 6 | 2021-12-03 | criteria provided, single submitter | clinical testing |