ClinVar Miner

Submissions for variant NM_002734.4(PRKAR1A):c.103A>G (p.Ile35Val) (rs377513504)

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
Illumina Clinical Services Laboratory,Illumina RCV000266462 SCV000405874 likely benign Carney complex 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000323950 SCV000405875 likely benign Acrodysostosis 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000541002 SCV000646280 uncertain significance Carney complex, type 1 2018-12-03 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 35 of the PRKAR1A protein (p.Ile35Val). The isoleucine residue is moderately conserved and there is a small physicochemical difference between isoleucine and valine. This variant is present in population databases (rs377513504, ExAC 0.06%), and has an allele count higher than expected for a pathogenic variant (PMID: 28166811). This variant has not been reported in the literature in individuals with a PRKAR1A-related disease. ClinVar contains an entry for this variant (Variation ID: 324781). 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, this variant has uncertain impact on PRKAR1A function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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.