ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.3763T>C (p.Ser1255Pro) (rs121909041)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CFTR2 RCV000007613 SCV000245924 pathogenic Cystic fibrosis 2017-03-17 reviewed by expert panel research
PharmGKB RCV000211376 SCV000268178 drug response Ivacaftor response 2018-03-23 reviewed by expert panel curation PharmGKB Level of Evidence 1A: Annotation for a variant-drug combination in a CPIC or medical society-endorsed PGx guideline, or implemented at a PGRN site or in another major health system.
Counsyl RCV000007613 SCV000486849 likely pathogenic Cystic fibrosis 2016-08-23 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000007613 SCV000696989 pathogenic Cystic fibrosis 2017-07-10 criteria provided, single submitter clinical testing Variant summary: The CFTR variant, c.3763T>C (p.Ser1255Pro) involves a conserved nucleotide located in the nucleotide-binding domain 2 that 4/4 in silico tools predict damaging outcome. This variant is absent in 121154 ExAC chromosomes. This variant was first found in a Belgian CF patient who was compound heterozygous for this variant and p.Phe508del (Lissens_1992). It has also been reported in another two CF patients without detailed genotype information (Claustres_2000, Schrijver_2016). Currently, it has been reported in 10 CF patients in CFTR2 database. Functional studies have shown that S1255P is defective in channel gating as well as chloride transport (Anderson_1992, Choi_2001, Yu_2012). These defects were shown to be compensated by ivacaftor treatment (Yu_2012). In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as likely pathogenic/pathogenic. Taken together, this variant is classified as pathogenic.
OMIM RCV000007613 SCV000027814 pathogenic Cystic fibrosis 1993-01-01 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.