ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.1680-877G>T (rs397508261)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CFTR2 RCV000046407 SCV000677592 pathogenic Cystic fibrosis 2017-03-17 reviewed by expert panel research
Counsyl RCV000046407 SCV000485916 likely pathogenic Cystic fibrosis 2016-03-01 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000046407 SCV000696867 likely pathogenic Cystic fibrosis 2016-01-05 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759031 SCV000888072 likely pathogenic not provided 2018-04-27 criteria provided, single submitter clinical testing
Invitae RCV000046407 SCV001574927 likely pathogenic Cystic fibrosis 2020-08-23 criteria provided, single submitter clinical testing This sequence change falls in intron 12 of the CFTR gene. It does not directly change the encoded amino acid sequence of the CFTR protein. This variant is present in population databases (rs397508261, gnomAD <0.01%). This variant has been observed as homozygous or compound heterozygous with other pathogenic CFTR variants in individuals affected with cystic fibrosis (PMID: 23974870, 26708955, 28475858). ClinVar contains an entry for this variant (Variation ID: 53331). Experimental studies have shown that this intronic change creates a cryptic pseudoexon between exon 12 and 13 and results in reduced levels of the CFTR transcript (PMID: 28475858). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Mayo Clinic Laboratories, Mayo Clinic RCV000759031 SCV001714832 pathogenic not provided 2019-12-30 criteria provided, single submitter clinical testing

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