Total submissions: 6
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Mendelics | RCV000757837 | SCV000886326 | pathogenic | Cystic fibrosis | 2018-11-05 | criteria provided, single submitter | clinical testing | |
| Johns Hopkins Genomics, |
RCV000757837 | SCV001573141 | pathogenic | Cystic fibrosis | 2021-04-29 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV000757837 | SCV003440107 | pathogenic | Cystic fibrosis | 2023-08-01 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Phe1078Profs*77) 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 (rs779177972, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with cystic fibrosis (PMID: 26574590). ClinVar contains an entry for this variant (Variation ID: 618934). For these reasons, this variant has been classified as Pathogenic. |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV000757837 | SCV004100220 | pathogenic | Cystic fibrosis | 2023-09-04 | criteria provided, single submitter | clinical testing | Variant summary: CFTR c.3231_3232delGT (p.Phe1078ProfsX77) 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 allele was found at a frequency of 4e-06 in 251060 control chromosomes. c.3231_3232delGT has been reported in the literature in individuals affected with Cystic Fibrosis (eg. Kharrazi_2015, etc.). The following publication have been ascertained in the context of this evaluation (PMID: 26574590). Three submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. All submitters classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. |
| Baylor Genetics | RCV003472277 | SCV004213544 | likely pathogenic | Bronchiectasis with or without elevated sweat chloride 1 | 2023-03-11 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV000757837 | SCV005984157 | pathogenic | Cystic fibrosis | 2025-03-11 | criteria provided, single submitter | clinical testing | The c.3231_3232delGT pathogenic mutation, located in coding exon 20 of the CFTR gene, results from a deletion of two nucleotides at nucleotide positions 3231 to 3232, causing a translational frameshift with a predicted alternate stop codon (p.F1078Pfs*77). 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. |