ClinVar Miner

Submissions for variant NM_006206.6(PDGFRA):c.1664A>G (p.Tyr555Cys)

dbSNP: rs121908589
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 RCV001379751 SCV001577611 likely pathogenic Gastrointestinal stromal tumor 2021-07-11 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with clinical features of GIST-plus syndrome (PMID: 17087943, Invitae). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 13552). This variant has been reported to affect PDGFRA protein function (PMID: 17087943). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This sequence change replaces tyrosine with cysteine at codon 555 of the PDGFRA protein (p.Tyr555Cys). The tyrosine residue is highly conserved and there is a large physicochemical difference between tyrosine and cysteine.
OMIM RCV000014511 SCV000034762 pathogenic Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal 2006-12-01 no assertion criteria provided literature only

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.