ClinVar Miner

Submissions for variant NM_005859.5(PURA):c.40G>C (p.Ala14Pro) (rs1046152089)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000691588 SCV000819374 uncertain significance Mental retardation, autosomal dominant 31 2018-02-22 criteria provided, single submitter clinical testing This sequence change replaces alanine with proline at codon 14 of the PURA protein (p.Ala14Pro). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and proline. While this variant is not present in population databases, the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with PURA-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; 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.
Ambry Genetics RCV000718635 SCV000849499 likely benign History of neurodevelopmental disorder 2018-06-12 criteria provided, single submitter clinical testing Insufficient evidence;In silico models in agreement (benign);Does not segregate with disease in family study (genes with incomplete penetrance)

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.