Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Pediatric Genomic Medicine, |
RCV000224603 | SCV000280872 | pathogenic | not provided | 2015-11-24 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000675098 | SCV000800631 | uncertain significance | Mucopolysaccharidosis, MPS-III-A | 2017-12-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000675098 | SCV002045099 | likely pathogenic | Mucopolysaccharidosis, MPS-III-A | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000675098 | SCV002285943 | likely pathogenic | Mucopolysaccharidosis, MPS-III-A | 2022-10-20 | criteria provided, single submitter | clinical testing | 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on SGSH protein function. ClinVar contains an entry for this variant (Variation ID: 235357). This missense change has been observed in individual(s) with mucopolysaccharidosis type III (PMID: 21204211). This variant is present in population databases (rs34520362, gnomAD 0.01%). This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 225 of the SGSH protein (p.Phe225Leu). |
Baylor Genetics | RCV000675098 | SCV004201109 | pathogenic | Mucopolysaccharidosis, MPS-III-A | 2023-07-24 | criteria provided, single submitter | clinical testing |