ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.2834C>T (p.Ser945Leu) (rs397508442)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CFTR2 RCV000056372 SCV000071530 pathogenic Cystic fibrosis 2017-03-17 reviewed by expert panel research
PharmGKB RCV000660828 SCV000783067 drug response ivacaftor response - Efficacy 2018-03-26 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 RCV000056372 SCV000220296 pathogenic Cystic fibrosis 2014-05-08 criteria provided, single submitter literature only
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723381 SCV000226578 pathogenic not provided 2015-04-13 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000056372 SCV000696927 pathogenic Cystic fibrosis 2019-01-23 criteria provided, single submitter clinical testing Variant summary: CFTR c.2834C>T (p.Ser945Leu) results in a non-conservative amino acid change located in the ABC transporter type 1, transmembrane domain of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 7.6e-05 in 277138 control chromosomes (gnomAD). This frequency is not significantly higher than expected for a pathogenic variant in CFTR causing Cystic Fibrosis (7.6e-05 vs 0.013), allowing no conclusion about variant significance. c.2834C>T has been reported in the literature in multiple individuals affected with Cystic Fibrosis (Sosnay_2013). These data indicate that the variant is very likely to be associated with disease. Two ClinVar submissions from clinical diagnostic laboratories (evaluation after 2014) cite the variant as pathogenic. One ClinVar submission from PharmGKB reports the variant to have a drug response. Based on the evidence outlined above, the variant was classified as pathogenic.
Mendelics RCV000056372 SCV000886264 pathogenic Cystic fibrosis 2018-11-05 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000723381 SCV000889300 pathogenic not provided 2018-08-24 criteria provided, single submitter clinical testing
Baylor Genetics RCV001004489 SCV001163534 pathogenic Cystic fibrosis; Congenital bilateral aplasia of vas deferens from CFTR mutation criteria provided, single submitter clinical testing
CFTR-France RCV001009364 SCV001169217 pathogenic Cystic fibrosis; CFTR-related disorders 2018-01-29 criteria provided, single submitter curation when the variant is in trans with another CF-causing variation, can either result in CF or in a CFTR-RD
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000723381 SCV001251894 pathogenic not provided 2020-05-03 criteria provided, single submitter clinical testing
Natera Inc RCV001027913 SCV001190636 pathogenic CFTR-related disorders 2019-05-20 no assertion criteria provided clinical testing

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