ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.2052dupA (p.Gln685Thrfs) (rs121908746)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CFTR2 RCV000029493 SCV000071473 pathogenic Cystic fibrosis 2017-03-17 reviewed by expert panel research
Invitae RCV000029493 SCV000074543 pathogenic Cystic fibrosis 2018-12-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln685Thrfs*4) in the CFTR gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs746460279, ExAC 0.006%). This variant has been reported in individuals affected with cystic fibrosis (PMID: 7525450, 23974870, 24586523), pancreatitis (PMID: 22020151), and congenital absence of the vas deferens (PMID: 9272157). This variant is also known as 2184insA and c.2052_2053insA in the literature. ClinVar contains an entry for this variant (Variation ID: 35838). Loss-of-function variants in CFTR are known to be pathogenic (PMID: 1695717, 7691345, 9725922). For these reasons, this variant has been classified as Pathogenic.
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000152995 SCV000281418 pathogenic not provided 2015-09-11 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000152995 SCV000331553 pathogenic not provided 2013-12-03 criteria provided, single submitter clinical testing
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000029493 SCV000584082 pathogenic Cystic fibrosis 2017-09-14 criteria provided, single submitter research
Ambry Genetics RCV000624094 SCV000742212 pathogenic Inborn genetic diseases 2014-06-06 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: POSITIVE: Relevant Alteration(s) Detected
Mendelics RCV000029493 SCV000886185 pathogenic Cystic fibrosis 2018-11-05 criteria provided, single submitter clinical testing
Johns Hopkins Genomics,Johns Hopkins University RCV000029493 SCV000999218 pathogenic Cystic fibrosis 2019-05-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000029493 SCV000052144 pathogenic Cystic fibrosis 2015-06-10 no assertion criteria provided clinical testing
Counsyl RCV000029493 SCV000677919 pathogenic Cystic fibrosis 2015-06-14 no assertion criteria provided clinical testing

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