ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.117A>T (p.Gln39His)

dbSNP: rs764522674
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Total submissions: 5
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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, LabCorp RCV001732021 SCV001983487 uncertain significance not specified 2021-09-26 criteria provided, single submitter clinical testing
Genome-Nilou Lab 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, Inc. RCV001040237 SCV001464067 uncertain significance Cystic fibrosis 2020-09-16 no assertion criteria provided clinical testing

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