ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.490-1G>C

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002340655 SCV002636893 likely pathogenic Cystic fibrosis 2022-06-13 criteria provided, single submitter clinical testing The c.490-1G>C intronic variant (also known as 622-1G>C) results from a G to C substitution one nucleotide before coding exon 5 of the CFTR gene. This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This nucleotide position is highly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will weaken the native splice acceptor site and will result in the creation or strengthening of a novel splice acceptor site. Alterations that disrupt the canonical splice site are expected to cause aberrant splicing, resulting in an abnormal protein or a transcript that is subject to nonsense-mediated mRNA decay. As such, this alteration is classified as likely pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005032244 SCV005673279 likely pathogenic Bronchiectasis with or without elevated sweat chloride 1; Cystic fibrosis; Hereditary pancreatitis; Congenital bilateral aplasia of vas deferens from CFTR mutation 2024-06-16 criteria provided, single submitter clinical testing

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