ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.2706C>G (p.Asp902Glu)

gnomAD frequency: 0.00004  dbSNP: rs587778315
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000531167 SCV000626173 uncertain significance Fanconi anemia 2022-10-24 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with glutamic acid, which is acidic and polar, at codon 902 of the FANCA protein (p.Asp902Glu). This variant is present in population databases (rs587778315, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with FANCA-related conditions. ClinVar contains an entry for this variant (Variation ID: 134259). 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 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.
Fulgent Genetics, Fulgent Genetics RCV000765327 SCV000896588 uncertain significance Fanconi anemia complementation group A 2022-04-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000765327 SCV001786764 uncertain significance Fanconi anemia complementation group A 2021-07-14 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000120932 SCV002066604 uncertain significance not specified 2019-08-02 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003477504 SCV004221979 uncertain significance not provided 2023-09-06 criteria provided, single submitter clinical testing In the published literature, the variant has been reported in a healthy individual (PMID: 24728327 (2014)). The frequency of this variant in the general population, 0.00012 (4/34590 chromosomes, http://gnomad.broadinstitute.org), is uninformative in 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 predictions that this variant is benign. Based on the available information, we are unable to determine the clinical significance of this variant.
ITMI RCV000120932 SCV000085100 not provided not specified 2013-09-19 no assertion provided reference population
Natera, Inc. RCV000531167 SCV002092588 uncertain significance Fanconi anemia 2020-02-03 no assertion criteria provided clinical testing

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