ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.4243-20A>G (rs138025486)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000586481 SCV000601119 uncertain significance not provided 2019-02-28 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000586481 SCV000697017 uncertain significance not provided 2017-06-05 criteria provided, single submitter clinical testing Variant summary: The CFTR c.4243-20A>G variant (alternatively also known as 4375-20A>G) involves the alteration of a non-conserved intronic nucleotide at a position not widely known to affect normal splicing. In addition, mutation taster predicts a benign outcome for this variant and 4/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 28/121318 control chromosomes including ExAC, predominantly observed in the African subpopulation at an allele frequency of 0.002428 (25/10298). This frequency is lower than the estimated maximal expected allele frequency of a pathogenic CFTR variant (0.0129603). However, it could still represent as a rare polymorphism in Africans. This variant has been reported in a 66-year-old African-American woman with an acute pancreatitis attack and a history of chronic pancreatitis and a 9-month-old African-American male infant with respiratory distress and Pseudomonas pneumonia (Keiles_2006). Whether this variant caused disease in those patients is not clear. It is also present in one internal subject who carried 5T_TG11 and c.224G>T (classified as pathogenic and VUS-possibly pathogenic, respectively), indicating the variant of interest may possibly be a benign variant. A published report classifies it as benign without evidence to independently evaluate (Ridge_2013). Taken together, this variant is classified as Variant of Unknown Significance-Possibly Benign.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000586481 SCV000703817 uncertain significance not provided 2018-06-05 criteria provided, single submitter clinical testing
Counsyl RCV000664604 SCV000788597 likely benign Cystic fibrosis 2017-01-06 criteria provided, single submitter clinical testing
Invitae RCV000664604 SCV001000837 likely benign Cystic fibrosis 2020-11-26 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001001659 SCV001159192 likely benign none provided 2020-03-26 criteria provided, single submitter clinical testing

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