Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000688992 | SCV000816625 | uncertain significance | Mucopolysaccharidosis, MPS-II | 2022-02-22 | criteria provided, single submitter | clinical testing | This sequence change replaces aspartic acid, which is acidic and polar, with histidine, which is basic and polar, at codon 382 of the IDS protein (p.Asp382His). This variant is present in population databases (rs370125505, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with IDS-related conditions. ClinVar contains an entry for this variant (Variation ID: 568588). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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. |
Daryl Scott Lab, |
RCV000688992 | SCV001448625 | uncertain significance | Mucopolysaccharidosis, MPS-II | 2020-11-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000688992 | SCV002027033 | uncertain significance | Mucopolysaccharidosis, MPS-II | 2021-09-05 | criteria provided, single submitter | clinical testing | |
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. |
Natera, |
RCV001830497 | SCV002084464 | uncertain significance | Mucopolysaccharidosis, MPS-III-A | 2019-10-28 | no assertion criteria provided | clinical testing |