Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV002458216 | SCV002613074 | uncertain significance | Inborn genetic diseases | 2015-03-26 | criteria provided, single submitter | clinical testing | The p.D382H variant (also known as c.1144G>C), located in coding exon 8 of the IDS gene, results from a G to C substitution at nucleotide position 1144. The aspartic acid at codon 382 is replaced by histidine, an amino acid with similar properties. This variant has been detected in conjunction with a pathogenic mutation in GRIA3 gene by our laboratory. This variant was previously reported in the SNPDatabase as rs370125505. Based on data from the NHLBI Exome Sequencing Project (ESP), the C allele was absent out of 2443 total male alleles studied. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear. |
| Genome- |
RCV000688992 | SCV002027033 | uncertain significance | Mucopolysaccharidosis, MPS-II | 2021-09-05 | criteria provided, single submitter | clinical testing | |
| Daryl Scott Lab, |
RCV000688992 | SCV001448625 | uncertain significance | Mucopolysaccharidosis, MPS-II | 2020-11-11 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV000688992 | SCV000816625 | likely benign | Mucopolysaccharidosis, MPS-II | 2026-01-31 | criteria provided, single submitter | clinical testing | |
| Natera, |
RCV001830497 | SCV002084464 | uncertain significance | Mucopolysaccharidosis, MPS-III-A | 2019-10-28 | no assertion criteria provided | clinical testing |