Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001066717 | SCV001231734 | uncertain significance | Cystic fibrosis | 2021-08-30 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamine with histidine at codon 39 of the CFTR protein (p.Gln39His). The glutamine residue is moderately conserved and there is a small physicochemical difference between glutamine and histidine. This variant is present in population databases (rs764522674, ExAC 0.01%). This variant has not been reported in the literature in individuals affected with CFTR-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The histidine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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. |
Natera, |
RCV001827430 | SCV002080072 | uncertain significance | CFTR-related disorders | 2020-10-12 | no assertion criteria provided | clinical testing |