Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001379902 | SCV001577798 | likely pathogenic | Cystic fibrosis | 2020-03-15 | criteria provided, single submitter | clinical testing | In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Loss-of-function variants in CFTR are known to be pathogenic (PMID: 1695717, 7691345, 9725922). This variant has been observed in individual(s) with cystic fibrosis (Invitae). This variant is not present in population databases (ExAC no frequency). This variant results in the deletion of part of exon 5 (c.578_579+5del) of the CFTR gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. |