ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.870-7_870-5del (rs759762840)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000506879 SCV000601135 uncertain significance not specified 2017-03-06 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000506879 SCV000708943 likely benign not specified 2017-05-30 criteria provided, single submitter clinical testing
Invitae RCV000868641 SCV001009998 benign Cystic fibrosis 2020-12-03 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000506879 SCV001362682 uncertain significance not specified 2019-06-18 criteria provided, single submitter clinical testing Variant summary: CFTR c.870-7_870-5delTTT alters a nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. 5/5 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 0.00047 in 248124 control chromosomes in the gnomAD database, including 2 homozygotes. This frequency is not higher than expected for a pathogenic variant in CFTR causing Cystic Fibrosis (0.00047 vs 0.013), allowing no conclusion about variant significance. The variant, c.870-7_870-5delTTT, has been reported in the literature in individuals affected with Cystic Fibrosis (Shastri_2008, Kharrazi_2015). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Two ClinVar submissions from other clinical diagnostic laboratories (evaluation after 2014) cite the variant once as uncertain significance and once as likely benign. Based on the evidence outlined above, the variant was classified as uncertain significance until additional information becomes available.

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