ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.2878C>T (p.Pro960Ser) (rs185397588)

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 RCV000586370 SCV000696931 uncertain significance not provided 2017-04-17 criteria provided, single submitter clinical testing Variant summary: The CFTR c.2878C>T (p.Pro960Ser) variant involves the alteration of a conserved nucleotide, is predicted to be damaging by 5/5 in silico tools and is located in the ABC transporter type 1, transmembrane domain (InterPro). This variant was found in 2/121298 control chromosomes from ExAC at a frequency of 0.0000165, which does not exceed the estimated maximal expected allele frequency of a pathogenic CFTR variant (0.0129603). 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. Similar variants at this region such as M952I/T, H954P, A959V, M961I, L967S and G970R/D/S have been reported in association with CF or CFTRD (ref. HGMD), highlighting the importance of this region in protein function. Because of the absence of clinical information and the lack of functional studies, the variant is 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.