Total submissions: 9
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| CFTR2 | RCV000029504 | SCV000245955 | pathogenic | Cystic fibrosis | 2017-03-17 | reviewed by expert panel | research | |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV000029504 | SCV000052155 | pathogenic | Cystic fibrosis | 2023-05-26 | criteria provided, single submitter | clinical testing | Variant summary: CFTR c.2810dupT (p.Val938GlyfsX37) 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. Variants downstream of this position have been classified as pathogenic by our laboratory. The variant was absent in 251404 control chromosomes (gnomAD). c.2810dupT has been reported in the literature in individuals affected with Cystic Fibrosis (Terlizzi_2016, McCague_2019, Middleton_2019, Nykamp_2021). These data indicate that the variant is likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publications have been ascertained in the context of this evaluation (PMID: 30888834, 31697873, 34196078, 27738188). Six ClinVar submitters (evaluation after 2014) cite this variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. |
| Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000759760 | SCV000889298 | pathogenic | not provided | 2018-01-10 | criteria provided, single submitter | clinical testing | |
| Johns Hopkins Genomics, |
RCV000029504 | SCV000992334 | pathogenic | Cystic fibrosis | 2019-03-28 | criteria provided, single submitter | clinical testing | |
| Baylor Genetics | RCV001004488 | SCV001163533 | pathogenic | Cystic fibrosis; Congenital bilateral aplasia of vas deferens from CFTR mutation | criteria provided, single submitter | clinical testing | ||
| CFTR- |
RCV000029504 | SCV001169514 | pathogenic | Cystic fibrosis | 2018-01-29 | criteria provided, single submitter | curation | |
| Labcorp Genetics |
RCV000029504 | SCV001591321 | pathogenic | Cystic fibrosis | 2023-10-07 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Val938Glyfs*37) 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: 23974870). ClinVar contains an entry for this variant (Variation ID: 35849). For these reasons, this variant has been classified as Pathogenic. |
| Ambry Genetics | RCV000029504 | SCV002747624 | pathogenic | Cystic fibrosis | 2020-12-28 | criteria provided, single submitter | clinical testing | The c.2810dupT pathogenic mutation, located in coding exon 17 of the CFTR gene, results from a duplication of T at nucleotide position 2810, causing a translational frameshift with a predicted alternate stop codon (p.V938Gfs*37). 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. |
| Baylor Genetics | RCV003473134 | SCV004213491 | pathogenic | Bronchiectasis with or without elevated sweat chloride 1 | 2023-06-11 | criteria provided, single submitter | clinical testing |