Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Counsyl | RCV000672832 | SCV000797978 | likely pathogenic | Mucopolysaccharidosis, MPS-III-C | 2018-02-20 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV001855586 | SCV002304951 | likely pathogenic | Mucopolysaccharidosis, MPS-III-C; Retinitis pigmentosa 73 | 2022-08-11 | criteria provided, single submitter | clinical testing | This sequence change affects an acceptor splice site in intron 16 of the HGSNAT gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in HGSNAT are known to be pathogenic (PMID: 17033958, 19479962). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 556780). 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). |
| Revvity Omics, |
RCV003489791 | SCV004238237 | likely pathogenic | not provided | 2023-06-19 | criteria provided, single submitter | clinical testing | |
| Institute of Human Genetics, |
RCV004817902 | SCV005068498 | uncertain significance | Retinal dystrophy | 2021-01-01 | no assertion criteria provided | clinical testing |