ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.869+1G>C

dbSNP: rs1330431481
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000733662 SCV000861752 pathogenic not provided 2018-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002442558 SCV002682184 likely pathogenic Cystic fibrosis 2015-05-15 criteria provided, single submitter clinical testing The c.869+1G>C intronic variant results from a G to C one nucleotide after coding exon 7 of the CFTR gene. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6501 samples (13002 alleles) with coverage at this position. This nucleotide position is highly conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is predicted to abolish the native donor splice site; however, direct evidence is unavailable. Alterations that disrupt the canonical splice donor site are typically deleterious in nature (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294). As such, the c.869+1G>C variant is classified as likely pathogenic.
Baylor Genetics RCV003472268 SCV004213569 likely pathogenic Bronchiectasis with or without elevated sweat chloride 1 2023-02-08 criteria provided, single submitter clinical testing

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