Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000003066 | SCV002231729 | pathogenic | Mucopolysaccharidosis, MPS-III-D | 2022-11-01 | 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: 2932). This premature translational stop signal has been observed in individual(s) with mucopolysaccharidosis type III (PMID: 12573255). This variant is present in population databases (rs119461974, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Arg355*) in the GNS gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GNS are known to be pathogenic (PMID: 20232353). |
Gene |
RCV003314547 | SCV004014292 | pathogenic | not provided | 2023-01-11 | criteria provided, single submitter | clinical testing | Multiple functional studies performed using patient-derived cell lines demonstrated no N-acetylglucosamine 6-sulfatase activity in cells homozygous for this variant (Pierzynowska et al., 2020; Wang et al., 2021; Gaffke et al., 2022); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25525159, 32944950, 12573255, 34928474, 33195185, 33320673, 32366041, 34828358) |
OMIM | RCV000003066 | SCV000023224 | pathogenic | Mucopolysaccharidosis, MPS-III-D | 2003-01-01 | no assertion criteria provided | literature only |