Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001387361 | SCV001587975 | pathogenic | Mucopolysaccharidosis, MPS-III-C; Retinitis pigmentosa 73 | 2023-07-03 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Asp450Ilefs*32) in the HGSNAT gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in HGSNAT are known to be pathogenic (PMID: 17033958, 19479962). This variant is present in population databases (rs771455190, gnomAD 0.007%). This premature translational stop signal has been observed in individual(s) with mucopolysaccharidosis type IIIC (PMID: 28397838, 31228227). ClinVar contains an entry for this variant (Variation ID: 1074147). For these reasons, this variant has been classified as Pathogenic. |
Fulgent Genetics, |
RCV001387361 | SCV002810897 | pathogenic | Mucopolysaccharidosis, MPS-III-C; Retinitis pigmentosa 73 | 2021-11-11 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003106224 | SCV003762019 | pathogenic | not provided | 2023-01-30 | criteria provided, single submitter | clinical testing | Frameshift 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: 19479962, 17033958, 28397838, 34374989, 31228227) |
Revvity Omics, |
RCV003106224 | SCV003822750 | pathogenic | not provided | 2022-05-11 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001826176 | SCV002083314 | pathogenic | Mucopolysaccharidosis, MPS-III-C | 2021-03-28 | no assertion criteria provided | clinical testing |