Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001040237 | SCV001203799 | uncertain significance | Cystic fibrosis | 2021-08-27 | 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 not present in population databases (ExAC no frequency). 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. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001732021 | SCV001983487 | uncertain significance | not specified | 2021-09-26 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001040237 | SCV002027327 | uncertain significance | Cystic fibrosis | 2021-09-05 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001040237 | SCV002636313 | uncertain significance | Cystic fibrosis | 2021-07-23 | criteria provided, single submitter | clinical testing | The p.Q39H variant (also known as c.117A>T), located in coding exon 2 of the CFTR gene, results from an A to T substitution at nucleotide position 117. The glutamine at codon 39 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Natera, |
RCV001040237 | SCV001464067 | uncertain significance | Cystic fibrosis | 2020-09-16 | no assertion criteria provided | clinical testing |