ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.3431G>A (p.Arg1144Gln)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002912838 SCV003247638 likely benign Fanconi anemia 2024-04-25 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003477026 SCV004218562 uncertain significance not provided 2024-12-03 criteria provided, single submitter clinical testing The FANCA c.3431G>A (p.Arg1144Gln) variant has not been reported in individuals with FANCA-related conditions in the published literature. The frequency of this variant in the general population, 0.0002 (7/34586 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 predictions that this variant is benign. Based on the available information, we are unable to determine the clinical significance of this variant.
Fulgent Genetics, Fulgent Genetics RCV005010759 SCV005642623 uncertain significance Fanconi anemia complementation group A 2024-02-08 criteria provided, single submitter clinical testing

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