Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000082654 | SCV000114696 | pathogenic | not provided | 2013-06-18 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000671662 | SCV000796657 | likely pathogenic | Mucopolysaccharidosis, MPS-III-C | 2017-12-21 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001221115 | SCV001393139 | pathogenic | Mucopolysaccharidosis, MPS-III-C; Retinitis pigmentosa 73 | 2023-09-19 | criteria provided, single submitter | clinical testing | This sequence change affects a donor splice site in intron 14 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). This variant is present in population databases (rs398124545, gnomAD 0.002%). Disruption of this splice site has been observed in individuals with mucopolysaccharidosis type IIIC (PMID: 17397050, 28981474). ClinVar contains an entry for this variant (Variation ID: 96502). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic. |
Gene |
RCV000082654 | SCV002061135 | likely pathogenic | not provided | 2021-12-03 | criteria provided, single submitter | clinical testing | Reported with another HGSNAT variant in a patient with retinitis pigmentosa in published literature, but it is not known whether the variants occurred on the same (in cis) or on different (in trans) chromosomes (Comander et al., 2017); Canonical splice site variant predicted to result in an in-frame deletion of a critical region; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25525159, 28981474, 17397050, 34047372) |
Fulgent Genetics, |
RCV001221115 | SCV002813896 | likely pathogenic | Mucopolysaccharidosis, MPS-III-C; Retinitis pigmentosa 73 | 2022-01-11 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000671662 | SCV002083317 | pathogenic | Mucopolysaccharidosis, MPS-III-C | 2021-06-24 | no assertion criteria provided | clinical testing |