ClinVar Miner

Submissions for variant NM_000203.5(IDUA):c.1247A>C (p.His416Pro)

gnomAD frequency: 0.00002  dbSNP: rs1419725967
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
Invitae RCV000694045 SCV000822471 uncertain significance Mucopolysaccharidosis type 1 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces histidine with proline at codon 416 of the IDUA protein (p.His416Pro). The histidine residue is moderately conserved and there is a moderate physicochemical difference between histidine 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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 RCV003130005 SCV003809996 uncertain significance not provided 2022-10-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV000694045 SCV001461764 uncertain significance Mucopolysaccharidosis type 1 2020-09-16 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.