ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.3962G>A (p.Arg1321His)

gnomAD frequency: 0.00006  dbSNP: rs374649848
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000545703 SCV000626200 likely benign Fanconi anemia 2023-11-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000765321 SCV000896581 uncertain significance Fanconi anemia complementation group A 2021-07-02 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000545703 SCV002535033 uncertain significance Fanconi anemia 2021-07-05 criteria provided, single submitter curation
Quest Diagnostics Nichols Institute San Juan Capistrano RCV002476091 SCV002774566 uncertain significance not provided 2023-02-07 criteria provided, single submitter clinical testing In the published literature, the variant has been reported in individuals with pancreatic cancer (PMID: 28767289 (2017)) and diffuse large B cell lymphoma (PMID: 23960188 (2013)).The frequency of this variant in the general population, 0.00023 (4/17352 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.
Natera, Inc. RCV000545703 SCV002092489 uncertain significance Fanconi anemia 2020-02-03 no assertion criteria provided clinical testing

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