ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.49_50del (p.Phe17fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV002284578 SCV002573977 likely pathogenic Cystic fibrosis 2022-09-05 criteria provided, single submitter curation This variant was identified in 1 patient with a clinically confirmed diagnosis of cystic fibrosis. The variant was classified in the context of a project re-classifying variants in the German Cystic Fibrosis Registry (Muko.e.V.). Link: https://www.muko.info/angebote/qualitaetsmanagement/register/cf-einrichtungen/mukoweb. Criteria applied: PVS1, PM2_SUP
Ambry Genetics RCV002284578 SCV002634598 pathogenic Cystic fibrosis 2017-05-04 criteria provided, single submitter clinical testing The c.49_50delTT pathogenic mutation, located in coding exon 1 of the CFTR gene, results from a deletion of two nucleotides at nucleotide positions 49 to 50, causing a translational frameshift with a predicted alternate stop codon (p.Phe17Glnfs*27). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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