ClinVar Miner

Submissions for variant NM_000203.5(IDUA):c.64C>G (p.Pro22Ala)

gnomAD frequency: 0.00004  dbSNP: rs1001972534
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001296491 SCV001485457 uncertain significance Mucopolysaccharidosis type 1 2022-05-25 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 22 of the IDUA protein (p.Pro22Ala). This variant is present in population databases (no rsID available, gnomAD 0.01%). 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: 1000369). 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) performed at Invitae indicates that this missense variant is not expected to disrupt 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 RCV002357082 SCV002655542 uncertain significance Inborn genetic diseases 2021-10-13 criteria provided, single submitter clinical testing The p.P22A variant (also known as c.64C>G), located in coding exon 1 of the IDUA gene, results from a C to G substitution at nucleotide position 64. The proline at codon 22 is replaced by alanine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001296491 SCV002083079 uncertain significance Mucopolysaccharidosis type 1 2020-05-04 no assertion criteria provided clinical testing

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