ClinVar Miner

Submissions for variant NC_000007.14:g.(?_117664682)_(117665570_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000553493 SCV000625723 pathogenic Cystic fibrosis 2017-10-04 criteria provided, single submitter clinical testing This variant is an in-frame deletion of the genomic region encompassing exons 25-26 of the CFTR gene. It preserves the integrity of the reading frame. Deletions of exons 25-26 been reported in individuals affected with cystic fibrosis (PMID: 15024729, 16362824, 18683213). Due to alternative exon nomenclature, this variant is also known as deletion of exons 22-23 in the literature. This deletion disrupts the nucleotide binding domain (NBD2) of the CFTR protein, which is essential for ATP hydrolysis and proper CFTR function (PMID: 15284228). For these reasons, this variant has been classified as Pathogenic.

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