Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
CFTR2 | RCV000576848 | SCV000677621 | pathogenic | Cystic fibrosis | 2017-03-17 | reviewed by expert panel | research | |
Mendelics | RCV000576848 | SCV000886255 | pathogenic | Cystic fibrosis | 2018-11-05 | criteria provided, single submitter | clinical testing | |
Johns Hopkins Genomics, |
RCV000576848 | SCV001167222 | pathogenic | Cystic fibrosis | 2019-09-15 | criteria provided, single submitter | clinical testing | Previously reported disease-causing CFTR variant. See www.CFTR2.org for phenotype information. |
CFTR- |
RCV000576848 | SCV001169318 | pathogenic | Cystic fibrosis | 2018-01-29 | criteria provided, single submitter | curation | |
Invitae | RCV000576848 | SCV001590547 | pathogenic | Cystic fibrosis | 2023-01-22 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 53980). This premature translational stop signal has been observed in individual(s) with CFTR-related conditions (PMID: 7512860). This variant is present in population databases (rs397508740, gnomAD 0.006%). This sequence change creates a premature translational stop signal (p.Gln2*) 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). |
Ambry Genetics | RCV000576848 | SCV002640685 | pathogenic | Cystic fibrosis | 2015-04-20 | criteria provided, single submitter | clinical testing | The p.Q2* mutation (also known as c.4C>T) located in coding exon 1 of the CFTR gene, results from a C to T substitution at nucleotide position 4. This changes the amino acid from a glutamine to a stop codon within coding exon 1. The first observation of this mutation was with p.R3W in a Bulgarian patient with lung disease, pancreatic insufficiency and at least one positive sweat test (Savov A 1994, Hum. Mol. Genet.; 3(1):57-60). In addition to the clinical data presented in the literature, since premature stop codons are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294). |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000576848 | SCV004020682 | pathogenic | Cystic fibrosis | 2023-06-14 | criteria provided, single submitter | clinical testing | Variant summary: CFTR c.4C>T (p.Gln2X) results in a premature termination codon, predicted to cause an absence of the protein due to nonsense mediated decay, which is a commonly known mechanism for disease. The variant allele was found at a frequency of 4e-06 in 251152 control chromosomes. c.4C>T has been reported in the literature in individuals affected with Cystic Fibrosis (example, Savov_1994, Alonso_2007, Alper_2004, Trujillano_2013, Bresnick_2021). These data indicate that the variant is likely to be associated with disease. The following publications have been ascertained in the context of this evaluation (PMID: 17331079, 15365999, 34857524, 7512860, 23687349). Multiple clinical diagnostic laboratories and databases have submitted 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 | RCV003474606 | SCV004213507 | pathogenic | Bronchiectasis with or without elevated sweat chloride 1 | 2023-05-12 | criteria provided, single submitter | clinical testing | |
Clin |
RCV000576848 | SCV000679499 | not provided | Cystic fibrosis | no assertion provided | literature only | ||
Natera, |
RCV000576848 | SCV001464063 | pathogenic | Cystic fibrosis | 2020-09-16 | no assertion criteria provided | clinical testing |