ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.274-6T>C (rs371315549)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000248062 SCV000603006 likely benign not specified 2017-05-08 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
Integrated Genetics/Laboratory Corporation of America 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.
Invitae RCV000231663 SCV000285000 likely benign Cystic fibrosis 2017-11-04 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.
Mendelics RCV000231663 SCV000886361 uncertain significance Cystic fibrosis 2018-11-05 criteria provided, single submitter clinical testing
PreventionGenetics RCV000248062 SCV000304484 likely benign not specified criteria provided, single submitter clinical testing

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