ClinVar Miner

Submissions for variant NM_000203.5(IDUA):c.250G>A (p.Gly84Ser)

dbSNP: rs564306004
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Total submissions: 4
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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
GeneDx 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, Revvity Omics RCV001731973 SCV003809971 uncertain significance not provided 2023-11-14 criteria provided, single submitter clinical testing

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