ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.505G>C (p.Glu169Gln)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002942541 SCV003271790 uncertain significance Fanconi anemia 2022-09-24 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with glutamine, which is neutral and polar, at codon 169 of the FANCA protein (p.Glu169Gln). This variant is present in population databases (rs372691338, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with FANCA-related conditions. 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 FANCA 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.
Revvity Omics, Revvity RCV003146690 SCV003833894 uncertain significance Fanconi anemia complementation group A 2019-09-11 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003477029 SCV004218624 uncertain significance not provided 2023-06-26 criteria provided, single submitter clinical testing This variant has not been reported in individuals with FANCA-related conditions in the published literature. The frequency of this variant in the general population, 0.00018 (3/16256 chromosomes (Genome Aggregation Database, http://gnomad.broadinstitute.org)), is uninformative in the assessment of its pathogenicity. Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded conflicting predictions that this variant is benign or damaging. Based on the available information, we are unable to determine the clinical significance of this variant.

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