Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000630459 | SCV000751415 | uncertain significance | Cystic fibrosis | 2023-12-08 | criteria provided, single submitter | clinical testing | This sequence change replaces isoleucine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 752 of the CFTR protein (p.Ile752Ser). This variant is present in population databases (rs766541549, gnomAD 0.005%). This missense change has been observed in individual(s) with atypical chronic rhino-sinusitis and nasal polyposis and no other signs suggestive of cystic fibrosis (PMID: 18493878). ClinVar contains an entry for this variant (Variation ID: 526021). 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 not expected to disrupt CFTR protein function with a negative predictive value of 80%. 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. |
Ce |
RCV001311301 | SCV001501417 | uncertain significance | not provided | 2020-08-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000630459 | SCV002027444 | uncertain significance | Cystic fibrosis | 2021-09-05 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000630459 | SCV002736511 | likely benign | Cystic fibrosis | 2022-05-05 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Natera, |
RCV001834987 | SCV002080727 | uncertain significance | CFTR-related disorder | 2018-06-06 | no assertion criteria provided | clinical testing |