ClinVar Miner

Submissions for variant NM_002734.4(PRKAR1A):c.381T>C (p.Ala127=) (rs372669687)

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
Ambry Genetics RCV000574210 SCV000674430 likely benign Hereditary cancer-predisposing syndrome 2017-06-06 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Integrated Genetics/Laboratory Corporation of America RCV000588396 SCV000698023 benign not provided 2017-02-03 criteria provided, single submitter clinical testing Variant summary: The PRKAR1A c.381T>C (p.Ala127Ala) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. . 5/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant may create a new ESE site. However, these predictions have yet to be confirmed by functional studies. This variant was found in 14/121340 control chromosomes, predominantly observed in the European (Non-Finnish) subpopulation at a frequency of 0.00021 (14/66714). This frequency is about 112 times the estimated maximal expected allele frequency of a pathogenic PRKAR1A variant (0.0000019), suggesting this is likely a benign polymorphism found primarily in the populations of European (Non-Finnish) origin. The variant of interest has not, to our knowledge, been reported in affected individuals via publications. Taken together, this variant is classified as Benign.
Invitae RCV000457198 SCV000556794 likely benign Carney complex, type 1 2017-12-18 criteria provided, single submitter 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.