ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.274-6T>C (rs371315549)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000231663 SCV000285000 likely benign Cystic fibrosis 2020-12-07 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000248062 SCV000304484 likely benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000590190 SCV000332295 uncertain significance not provided 2018-07-09 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000248062 SCV000538670 likely benign not specified 2016-04-25 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Not reported. No information available. Gene not associated to pt disease.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001283522 SCV000603006 likely benign none provided 2020-06-19 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000590190 SCV000696919 likely benign not provided 2016-06-19 criteria provided, single submitter clinical testing Variant summary: The c.274-6T>C in CFTR gene is an intronic variant that affects a non-conserved nucleotide located at a position not widely known to affect splicing. 5/5 in silico tools predict no significant effects on splicing and these predictions been confirmed by in vitro/vivo studies (Raynal , 2013). Variant was observed in the large and broad cohorts of the ExAC project at an allele frequency of 0.0005 (59/114809 chrs tested) predominantly in individuals of Non-Finnish European ancestry. Although the observed frequency does not exceed the maximal expected allele frequency of a disease causing allele (0.006), it is more than carrier frequency of all known splice acceptor mutations in ExAC cohort, indicating it is rare polymorphism. The variant was reported in several CF-RD spectrum patients without strong evidence for pathogenicity as well as in unaffected controls. Clinical diagnostic centers classify variant as Benign/VUS without evidence to independently evaluate. Taking together, the variant was classified as Likely Benign.
Mendelics RCV000231663 SCV000886361 uncertain significance Cystic fibrosis 2018-11-05 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001161754 SCV001323655 uncertain significance CFTR-related disorders 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000590190 SCV001470300 likely benign not provided 2020-09-04 criteria provided, single submitter clinical testing
GeneDx RCV000590190 SCV001816633 likely benign not provided 2020-02-07 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 32429104, 10571949, 10601093, 10746558, 11938439, 21499205, 23381846, 21708286, 20717170, 15858154, 21198395, 7691344, 21520337, 25087612, 25781545, 25525159, 17020467, 15758663)
Nilou-Genome Lab RCV000231663 SCV001821988 likely benign Cystic fibrosis 2021-07-22 criteria provided, single submitter clinical testing
Natera, Inc. RCV000231663 SCV001453946 likely benign Cystic fibrosis 2019-08-07 no assertion criteria provided clinical testing

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