ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.1820_1903del (p.Met607_Gln634del) (rs121908777)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000046486 SCV000696875 pathogenic Cystic fibrosis 2016-03-28 criteria provided, single submitter clinical testing Variant summary: CFTR c.1820_1903del84 is a large deletion of 84 consecutive nucleotides, resulting in an in-frame deletion of 28 amino acids within the regulatory domain of the CFTR protein. Mutation taster predicts this variant to be disease-causing. This variant was found in 9/730390 control chromosomes at a frequency of 0.0000123, which does not significantly exceed the maximal expected frequency of a pathogenic CFTR allele (0.0129603). This variant has been reported in compound heterozyous state, including deltaF508, in multiple CF patients (mostly Hispanic and Spanish) with moderate to severe phenotypes. One clinical laboratory via ClinVar classified this variant as likely pathogenic, without evidence to independently evaluate. Taken together, this variant was classified as a disease variant/pathogenic.
CFTR-France RCV000046486 SCV001169426 pathogenic Cystic fibrosis 2018-01-29 criteria provided, single submitter curation
Myriad Women's Health, Inc. RCV000046486 SCV001193958 likely pathogenic Cystic fibrosis 2019-12-04 criteria provided, single submitter clinical testing NM_000492.3(CFTR):c.1820_1903del84(aka M607_Q643del) is classified as likely pathogenic in the context of cystic fibrosis. Sources cited for classification include the following: PMID 1373934, 15371903, 10875853, 15858154, 21520337, 10777364, 21474639 and 1284539. Classification of NM_000492.3(CFTR):c.1820_1903del84(aka M607_Q643del) is based on the following criteria: This variant has been observed more frequently in patients with clinical diagnoses than in healthy populations. Please note: this variant was assessed in the context of healthy population screening.
Johns Hopkins Genomics, Johns Hopkins University RCV000046486 SCV001469038 likely pathogenic Cystic fibrosis 2020-12-07 criteria provided, single submitter clinical testing This CFTR variant is predicted to result in an in-frame deletion of 28 amino acids. It has been identified in multiple individuals with a classic cystic fibrosis phenotype. This variant has been reported in ClinVar. We consider c.1820_1903del to be likely pathogenic.
OMIM RCV000046486 SCV000027769 pathogenic Cystic fibrosis 1992-05-01 no assertion criteria provided literature only

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