ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.41A>G (p.Asp14Gly)

gnomAD frequency: 0.00024  dbSNP: rs762648754
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000233505 SCV000283569 benign Fanconi anemia 2024-01-24 criteria provided, single submitter clinical testing
Counsyl RCV000665027 SCV000789082 uncertain significance Fanconi anemia complementation group A 2016-12-28 criteria provided, single submitter clinical testing
GeneDx RCV001770188 SCV001992760 uncertain significance not provided 2019-06-25 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Genetic Services Laboratory, University of Chicago RCV001818561 SCV002065366 uncertain significance not specified 2017-07-12 criteria provided, single submitter clinical testing
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV000665027 SCV002584725 uncertain significance Fanconi anemia complementation group A 2022-07-12 criteria provided, single submitter clinical testing The FANCA c.41A>G (p.Asp14Gly) missense change has maximum subpopulation frequency of 0.14% in gnomAD v2.1.1 (https://gnomad.broadinstitute.org/). The in silico tool REVEL predicts a benign effect on protein function, but to our knowledge this prediction has not been confirmed by functional studies. To our knowledge, this variant has not been reported in individuals with Fanconi anemia. In summary, the evidence currently available is insufficient to determine the clinical significance of this variant. It has therefore been classified as of uncertain significance.
Fulgent Genetics, Fulgent Genetics RCV000665027 SCV002778342 uncertain significance Fanconi anemia complementation group A 2022-04-08 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001770188 SCV004218604 uncertain significance not provided 2023-08-23 criteria provided, single submitter clinical testing To the best of our knowledge, this variant has not been reported in the published literature. The frequency of this variant in the general population, 0.0014 (16/11624 chromosomes in African/African American subpopulation (Genome Aggregation Database, http://gnomad.broadinstitute.org)), is higher than would generally be expected for pathogenic variants in this gene. 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.
Natera, Inc. RCV000233505 SCV002093159 uncertain significance Fanconi anemia 2020-08-03 no assertion criteria provided clinical testing

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