Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000557902 | SCV000625743 | pathogenic | Cystic fibrosis | 2023-10-13 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Phe976Trpfs*4) 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). This variant is present in population databases (no rsID available, gnomAD 0.01%). This premature translational stop signal has been observed in individual(s) with clinical features of CFTR-related conditions (Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 455773). For these reasons, this variant has been classified as Pathogenic. |
| Ambry Genetics | RCV000557902 | SCV001177941 | likely pathogenic | Cystic fibrosis | 2023-06-02 | criteria provided, single submitter | clinical testing | The c.2909_2924dup16 variant, located in coding exon 18 of the CFTR gene, results from a duplication of GTGGGATTCTTAATAG at nucleotide position 2909. This 16 nucleotide duplication is expected to cause a translational frameshift with a predicted alternate stop codon (p.F976Wfs*4), which would result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. However, this duplication could also create a new alternate acceptor site, which would produce a normal protein if used. Based on the majority of available evidence to date, this variant is likely to be pathogenic. |
| Natera, |
RCV000557902 | SCV001461250 | likely pathogenic | Cystic fibrosis | 2020-09-16 | no assertion criteria provided | clinical testing |