Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| CFTR2 | RCV000046380 | SCV000245962 | pathogenic | Cystic fibrosis | 2017-03-17 | reviewed by expert panel | research | |
| Labcorp Genetics |
RCV000046380 | SCV001587479 | pathogenic | Cystic fibrosis | 2020-07-29 | criteria provided, single submitter | clinical testing | 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. This variant has been observed in individual(s) with CFTR-related conditions (PMID: 23974870). ClinVar contains an entry for this variant (Variation ID: 53312). This sequence change creates a premature translational stop signal (p.Gly550*) in the CFTR gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV000046380 | SCV002074464 | pathogenic | Cystic fibrosis | 2022-01-29 | criteria provided, single submitter | clinical testing | Variant summary: CFTR c.1648G>T (p.Gly550X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant was absent in 250898 control chromosomes. c.1648G>T has been reported in the literature in individuals affected with Cystic Fibrosis (example, Estivill_1997, McCague_2019). One clinical diagnostic laboratory and the CFTR2 database have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. Both submitters classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. |
| Ambry Genetics | RCV000046380 | SCV002703807 | pathogenic | Cystic fibrosis | 2019-02-19 | criteria provided, single submitter | clinical testing | The p.G550* pathogenic mutation (also known as c.1648G>T), located in coding exon 12 of the CFTR gene, results from a G to T substitution at nucleotide position 1648. This changes the amino acid from a glycine to a stop codon within coding exon 12. 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. |
| Natera, |
RCV001826616 | SCV002080633 | pathogenic | CFTR-related disorder | 2017-03-17 | no assertion criteria provided | clinical testing |