Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000669029 | SCV000793727 | likely pathogenic | Mucopolysaccharidosis, MPS-III-C | 2017-08-31 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003767971 | SCV004569646 | pathogenic | Mucopolysaccharidosis, MPS-III-C; Retinitis pigmentosa 73 | 2023-05-21 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 553553). This premature translational stop signal has been observed in individual(s) with mucopolysaccharidosis type IIIC (PMID: 19479962). This sequence change creates a premature translational stop signal (p.Tyr558*) 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). |