Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000153362 | SCV000202846 | benign | not specified | 2014-03-31 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000670920 | SCV000795836 | uncertain significance | Mucopolysaccharidosis, MPS-III-C | 2017-11-20 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000670920 | SCV001137617 | benign | Mucopolysaccharidosis, MPS-III-C | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001243388 | SCV001416544 | uncertain significance | Mucopolysaccharidosis, MPS-III-C; Retinitis pigmentosa 73 | 2022-10-25 | criteria provided, single submitter | clinical testing | This sequence change replaces proline, which is neutral and non-polar, with glutamine, which is neutral and polar, at codon 237 of the HGSNAT protein (p.Pro237Gln). This variant is present in population databases (rs727503962, gnomAD 0.01%). This missense change has been observed in individual(s) with Sanfillipo syndrome (PMID: 17033958, 18024218, 33673364; Invitae). ClinVar contains an entry for this variant (Variation ID: 167177). 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) performed at Invitae indicates that this missense variant is not expected to disrupt HGSNAT protein function. Experimental studies have shown that this missense change does not substantially affect HGSNAT function (PMID: 19823584, 20583299, 20825431). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
Ce |
RCV001815238 | SCV002063190 | likely benign | not provided | 2021-12-01 | criteria provided, single submitter | clinical testing | |
Ai |
RCV001815238 | SCV002501390 | uncertain significance | not provided | 2021-05-22 | criteria provided, single submitter | clinical testing |