ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.1734C>T (p.Tyr578=)

gnomAD frequency: 0.00006  dbSNP: rs762647468
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000870464 SCV001011962 likely benign Fanconi anemia 2024-11-25 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001816998 SCV002068608 likely benign not specified 2021-01-08 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495295 SCV002803197 likely benign Fanconi anemia complementation group A 2021-08-30 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003478547 SCV004221930 uncertain significance not provided 2023-12-05 criteria provided, single submitter clinical testing The FANCA c.1734C>T (p.Tyr578=) synonymous variant has been reported in the published literature in hereditary cancer patients (PMID: 32235514 (2020)). The frequency of this variant in the general population, 0.0002 (7/35424 chromosomes (Genome Aggregation Database, http://gnomad.broadinstitute.org)), is uninformative in the assessment of its pathogenicity. Analysis of this variant using software algorithms for the prediction of the effect of nucleotide changes on splicing yielded predictions that this variant does not affect FANCA mRNA splicing. Based on the available information, we are unable to determine the clinical significance of this variant.
Natera, Inc. RCV000870464 SCV002095016 likely benign Fanconi anemia 2020-02-28 no assertion criteria provided clinical testing

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