ClinVar Miner

Submissions for variant NM_000203.5(IDUA):c.1303C>G (p.Arg435Gly)

dbSNP: rs1188900288
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001373620 SCV001570346 uncertain significance Mucopolysaccharidosis type 1 2023-12-27 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 435 of the IDUA protein (p.Arg435Gly). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with IDUA-related conditions. ClinVar contains an entry for this variant (Variation ID: 1063751). 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.
GeneDx RCV001773737 SCV001992274 uncertain significance not provided 2019-04-24 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Revvity Omics, Revvity RCV001773737 SCV003817563 uncertain significance not provided 2023-08-25 criteria provided, single submitter clinical testing
Natera, Inc. RCV001373620 SCV002075351 uncertain significance Mucopolysaccharidosis type 1 2020-07-20 no assertion criteria provided clinical testing

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