Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV002452132 | SCV002612728 | pathogenic | Cystic fibrosis | 2021-08-26 | criteria provided, single submitter | clinical testing | The c.3407_3422del16 pathogenic mutation, located in coding exon 21 of the CFTR gene, results from a deletion of 16 nucleotides at nucleotide positions 3407 to 3422, causing a translational frameshift with a predicted alternate stop codon (p.A1136Vfs*7). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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. |
| Labcorp Genetics |
RCV002452132 | SCV004551387 | pathogenic | Cystic fibrosis | 2023-03-27 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ala1136Valfs*7) in the CFTR gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CFTR are known to be pathogenic (PMID: 1695717, 7691345, 9725922). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1731130). This variant has not been reported in the literature in individuals affected with CFTR-related conditions. This variant is not present in population databases (gnomAD no frequency). |
| Baylor Genetics | RCV004572246 | SCV005057454 | likely pathogenic | Bronchiectasis with or without elevated sweat chloride 1 | 2024-01-03 | criteria provided, single submitter | clinical testing |