Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genomic Research Center, |
RCV000791142 | SCV000930416 | pathogenic | Mucopolysaccharidosis, MPS-III-C | 2019-04-27 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003768479 | SCV004585930 | pathogenic | Mucopolysaccharidosis, MPS-III-C; Retinitis pigmentosa 73 | 2023-11-09 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln350*) 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 present in population databases (rs752939204, gnomAD 0.006%). This premature translational stop signal has been observed in individual(s) with autosomal recessive retinitis pigmentosa (PMID: 32347150). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 638471). For these reasons, this variant has been classified as Pathogenic. |
Dept Of Ophthalmology, |
RCV003889987 | SCV004706040 | pathogenic | Retinal dystrophy | 2023-10-01 | criteria provided, single submitter | research |