ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.579+3A>G (rs397508761)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CFTR2 RCV000056396 SCV000071574 pathogenic Cystic fibrosis 2017-03-17 reviewed by expert panel research
Invitae RCV000056396 SCV000075216 pathogenic Cystic fibrosis 2018-11-26 criteria provided, single submitter clinical testing This sequence change falls in intron 5 of the CFTR gene. It does not directly change the encoded amino acid sequence of the CFTR protein, but it affects a nucleotide within the consensus splice site of the intron. This variant is present in population databases (rs397508761, ExAC 0.003%). This variant has been reported in many individuals affected with cystic fibrosis, often with a second pathogenic variant in trans with this allele (PMID: 7524913, 23974870, 21097845). Generally individuals with this variant were pancreatic-sufficient (PMID: 18456578). This variant is also known as c.711+3A>G in the literature. ClinVar contains an entry for this variant (Variation ID: 54010). Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Experimental studies have shown that this variant leads to skipping of exon 5 in vitro and in vivo (PMID: 23974870, 21097845). A version of the CFTR protein lacking exon 5 is improperly processed and lacks full channel activity (PMID: 8968585). For these reasons, this variant has been classified as Pathogenic.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000506239 SCV000601126 pathogenic not provided 2017-04-14 criteria provided, single submitter clinical testing
Mendelics RCV000056396 SCV000886250 pathogenic Cystic fibrosis 2018-11-05 criteria provided, single submitter clinical testing

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