Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV002243612 | SCV002513155 | pathogenic | not provided | 2022-05-05 | 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: 18518886) |
Fulgent Genetics, |
RCV002476908 | SCV002799977 | pathogenic | Mucopolysaccharidosis, MPS-III-C; Retinitis pigmentosa 73 | 2021-07-23 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002476908 | SCV003440702 | pathogenic | Mucopolysaccharidosis, MPS-III-C; Retinitis pigmentosa 73 | 2023-11-14 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Val176Cysfs*16) 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 not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with HGSNAT-related conditions (PMID: 18518886). ClinVar contains an entry for this variant (Variation ID: 1235). For these reasons, this variant has been classified as Pathogenic. |
OMIM | RCV000001294 | SCV000021444 | pathogenic | Mucopolysaccharidosis, MPS-III-C | 2008-08-01 | no assertion criteria provided | literature only |