Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Baylor Genetics | RCV001004508 | SCV001163553 | likely pathogenic | Cystic fibrosis; Congenital bilateral aplasia of vas deferens from CFTR mutation | criteria provided, single submitter | clinical testing | ||
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV003317413 | SCV004020652 | pathogenic | Cystic fibrosis | 2023-06-07 | criteria provided, single submitter | clinical testing | Variant summary: CFTR c.3796G>T (p.Glu1266X) 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. The variant was absent in 251024 control chromosomes. c.3796G>T has been reported in the literature in individuals affected with Cystic Fibrosis (Schrijver_2016). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication have been ascertained in the context of this evaluation (PMID: 26708955). No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as pathogenic. |
| Baylor Genetics | RCV003467573 | SCV004215207 | likely pathogenic | Bronchiectasis with or without elevated sweat chloride 1 | 2023-01-23 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV003317413 | SCV004294678 | pathogenic | Cystic fibrosis | 2023-12-14 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Glu1266*) 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 not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with cystic fibrosis (PMID: 26708955). ClinVar contains an entry for this variant (Variation ID: 813448). For these reasons, this variant has been classified as Pathogenic. |
| Ambry Genetics | RCV003317413 | SCV005035743 | pathogenic | Cystic fibrosis | 2023-11-11 | criteria provided, single submitter | clinical testing | The p.E1266* pathogenic mutation (also known as c.3796G>T), located in coding exon 23 of the CFTR gene, results from a G to T substitution at nucleotide position 3796. This changes the amino acid from a glutamic acid to a stop codon within coding exon 23. This variant was identified in 2 of 140 non-white cystic fibrosis patients undergoing CFTR genetic testing (Schrijver I et al. J Mol Diagn, 2016 Jan;18:39-50). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). In addition to the clinical data presented in the literature, 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. |