ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.2589C>A (p.Gly863=)

gnomAD frequency: 0.00024  dbSNP: rs72807571
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000538744 SCV000626168 likely benign Fanconi anemia 2024-01-26 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001115462 SCV001273440 uncertain significance Fanconi anemia complementation group A 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001800737 SCV002047129 likely benign not specified 2021-05-18 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000538744 SCV002534958 likely benign Fanconi anemia 2021-09-23 criteria provided, single submitter curation
PreventionGenetics, part of Exact Sciences RCV003960255 SCV004782077 likely benign FANCA-related condition 2022-08-08 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Genetic Services Laboratory, University of Chicago RCV001800737 SCV003839500 likely benign not specified 2022-11-10 no assertion criteria provided clinical testing

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