Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000414027 | SCV000492057 | likely pathogenic | not provided | 2018-08-03 | criteria provided, single submitter | clinical testing | The K368X variant in the HGSNAT gene has not been reported previously as a pathogenic variant nor as a benignvariant, to our knowledge. This variant is predicted to cause loss of normal protein function either through proteintruncation or nonsense-mediated mRNA decay. The K368X variant was not observed in approximately 6200individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is nota common benign variant in these populations. The K368X variant is a strong candidate for a pathogenic variant,however the possibility it may be a rare benign variant cannot be excluded. |
| Invitae | RCV001389727 | SCV001591180 | pathogenic | Mucopolysaccharidosis, MPS-III-C; Retinitis pigmentosa 73 | 2023-01-16 | 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: 373465). This variant has not been reported in the literature in individuals affected with HGSNAT-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Lys368*) 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). |