ClinVar Miner

Submissions for variant NM_000203.5(IDUA):c.1264G>C (p.Ala422Pro)

gnomAD frequency: 0.00001  dbSNP: rs1392555572
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001313928 SCV001504439 uncertain significance Mucopolysaccharidosis type 1 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces alanine with proline at codon 422 of the IDUA protein (p.Ala422Pro). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and proline. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has not been reported in the literature in individuals affected with IDUA-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
Revvity Omics, Revvity RCV003132397 SCV003817582 uncertain significance not provided 2022-05-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV001313928 SCV002075349 uncertain significance Mucopolysaccharidosis type 1 2021-08-24 no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.