ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.1544A>G (p.Tyr515Cys) (rs1554384431)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000586452 SCV000696848 uncertain significance not provided 2016-09-07 criteria provided, single submitter clinical testing Variant summary: The CFTR c.1544A>G (p.Tyr515Cys) variant involves the alteration of a conserved nucleotide. 5/5 in silico tools predict a damaging outcome for this variant. This variant is located in the ABC transporter-like domain and the P-loop containing nucleoside triphosphate hydrolase domain of the protein (InterPro). Structural/biochemical analysis indicate that Tyr515 residue is phosphorylated in vivo (PMID: 24178769). This variant is absent in 121248 control chromosomes. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories, nor evaluated for functional impact by in vivo/vitro studies. Because of the absence of clinical information and the lack of functional studies, the variant is currently classified as a variant of uncertain significance (VUS) until additional information becomes available.

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.