Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000594452 | SCV000709270 | uncertain significance | not provided | 2017-06-08 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000664824 | SCV000788842 | uncertain significance | Cystic fibrosis | 2017-01-04 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000664824 | SCV000886386 | uncertain significance | Cystic fibrosis | 2018-11-05 | criteria provided, single submitter | clinical testing | |
Johns Hopkins Genomics, |
RCV000664824 | SCV001425411 | uncertain significance | Cystic fibrosis | 2020-05-22 | criteria provided, single submitter | clinical testing | CFTR c.3794G>T has been previously identified in individuals with features of cystic fibrosis and has been reported in ClinVar. It is absent from a large population dataset. Three bioinformatic tools queried predict that this substitution would probably be damaging, and the glycine residue at this position is evolutionarily conserved across all species assessed. Due to lack of functional evidence that this variant is deleterious, we consider its the clinical significance to be uncertain at this time. |
Genome- |
RCV000664824 | SCV002027519 | uncertain significance | Cystic fibrosis | 2021-09-05 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000664824 | SCV002930594 | uncertain significance | Cystic fibrosis | 2022-10-18 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1265 of the CFTR protein (p.Gly1265Val). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with CFTR-related conditions (PMID: 26708955). ClinVar contains an entry for this variant (Variation ID: 502505). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt CFTR protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |