ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.579+1G>T (rs77188391)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
American College of Medical Genetics and Genomics (ACMG) RCV000043566 SCV000071410 pathogenic Cystic fibrosis 2004-03-03 practice guideline curation Converted during submission to Pathogenic.
CFTR2 RCV000043566 SCV000071462 pathogenic Cystic fibrosis 2017-03-17 reviewed by expert panel research
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723838 SCV000331548 pathogenic not provided 2016-05-19 criteria provided, single submitter clinical testing
Counsyl RCV000043566 SCV000485137 pathogenic Cystic fibrosis 2015-11-26 criteria provided, single submitter clinical testing
Mendelics RCV000043566 SCV000886197 pathogenic Cystic fibrosis 2018-11-05 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000780140 SCV000917185 pathogenic not specified 2018-03-19 criteria provided, single submitter clinical testing Variant summary: CFTR c.579+1G>T is located in a canonical splice-site and is predicted to affect mRNA splicing resulting in a significantly altered protein due to either exon skipping, shortening, or inclusion of intronic material. Several computational tools predict a significant impact on normal splicing: Five predict the variant abolishes a 5' splicing donor site and one predicts the variant abolishes a 3' acceptor site. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 4e-05 in 275871 control chromosomes (gnomAD and publications). c.579+1G>T has been reported in the literature in multiple individuals affected with Classic Cystic Fibrosis (McKone_2003, Zielenski_1991, Sosnay_2013). These data indicate that the variant is very likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Four diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014, and all classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.

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