Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000900715 | SCV001045047 | uncertain significance | Mucopolysaccharidosis type 1 | 2022-11-01 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 84 of the IDUA protein (p.Gly84Ser). This variant is present in population databases (rs564306004, gnomAD 0.3%), including at least one homozygous and/or hemizygous individual. This missense change has been observed in individual(s) with mucopolysaccharidosis type I (PMID: 23465405). ClinVar contains an entry for this variant (Variation ID: 726495). 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 IDUA protein function. 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. |
Ambry Genetics | RCV001265723 | SCV001443892 | uncertain significance | Inborn genetic diseases | 2017-12-07 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001731973 | SCV001982630 | uncertain significance | not provided | 2021-10-04 | criteria provided, single submitter | clinical testing | Identified in a patient who had an abnormal newborn screening result for MPS I (Scott et al., 2013); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 28676128, 23465405) |
Revvity Omics, |
RCV001731973 | SCV003809971 | uncertain significance | not provided | 2023-11-14 | criteria provided, single submitter | clinical testing |