ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.40_44del (p.Lys14fs)

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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 RCV002375661 SCV002624456 pathogenic Cystic fibrosis 2024-06-03 criteria provided, single submitter clinical testing The c.40_44delAAACT pathogenic mutation, located in coding exon 1 of the CFTR gene, results from a deletion of 5 nucleotides at nucleotide positions 40 to 44, causing a translational frameshift with a predicted alternate stop codon (p.K14Ffs*29). 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.
Baylor Genetics RCV004572268 SCV005057435 likely pathogenic Bronchiectasis with or without elevated sweat chloride 1 2024-02-13 criteria provided, single submitter clinical testing

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