ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.2353C>T (p.Arg785Ter) (rs374946172)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CFTR2 RCV000046582 SCV000245881 pathogenic Cystic fibrosis 2017-03-17 reviewed by expert panel research
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000046582 SCV000696896 pathogenic Cystic fibrosis 2016-05-11 criteria provided, single submitter clinical testing Variant summary: The CFTR c.2353C>T (p.Arg785X) variant results in a premature termination codon, predicted to cause a truncated or absent CFTR protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory (e.g. p.Glu831X, p.Arg851X, p.Trp1089X). This variant was found in 1/114550 control chromosomes at a frequency of 0.0000087, which does not exceed the estimated maximal expected allele frequency of a pathogenic CFTR variant (0.0129603). The variant was reported in numerous CF patients in the literature and multiple clinical diagnostic laboratories/reputable databases classified this variant as pathogenic. Taken together, this variant is classified as pathogenic.
Baylor Genetics RCV001004474 SCV001163519 pathogenic Cystic fibrosis; Congenital bilateral aplasia of vas deferens from CFTR mutation criteria provided, single submitter clinical testing
CFTR-France RCV000046582 SCV001169559 pathogenic Cystic fibrosis 2018-01-29 criteria provided, single submitter curation
Invitae RCV000046582 SCV001585106 pathogenic Cystic fibrosis 2019-11-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg785*) in the CFTR gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs374946172, ExAC 0.01%). This variant has been observed in individuals affected with cystic fibrosis (PMID: 18467194, 26436105, 17662673, 16189704) and it has has been observed on the opposite chromosome (in trans) from a pathogenic variant in an individual affected with cystic fibrosis (PMID: 29504914). This finding is consistent with autosomal recessive inheritance, and suggests that this variant contributes to disease. This variant is also known as 2485C>T in the literature. ClinVar contains an entry for this variant (Variation ID: 53480). 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.
Counsyl RCV000046582 SCV001132354 likely pathogenic Cystic fibrosis 2015-03-15 no assertion criteria provided clinical testing

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