ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.3427C>G (p.Leu1143Val)

gnomAD frequency: 0.00048  dbSNP: rs61753269
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000474415 SCV000547783 benign Fanconi anemia 2024-01-25 criteria provided, single submitter clinical testing
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV002293419 SCV002010184 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000120940 SCV002065177 uncertain significance not specified 2019-06-26 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000474415 SCV002535005 likely benign Fanconi anemia 2021-05-14 criteria provided, single submitter curation
GeneDx RCV002293419 SCV002586616 uncertain significance not provided 2023-05-16 criteria provided, single submitter clinical testing Identified in the heterozygous state in individuals with breast cancer, but familial segregation information was limited and additional clinical information was not included (Seal et al., 2003; Litim et al., 2013); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 24728327, 14695169, 23021409)
CeGaT Center for Human Genetics Tuebingen RCV002293419 SCV004143596 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing FANCA: BP4
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV003444203 SCV004171525 uncertain significance Fanconi anemia complementation group A 2023-10-31 criteria provided, single submitter clinical testing The FANCA c.3427C>G (p.Leu1143Val) missense change has a maximum non-founder subpopulation frequency of 0.070% 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 role of this variant in Fanconi anemia. It has therefore been classified as of uncertain significance.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV002293419 SCV004218560 likely benign not provided 2023-03-08 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV002293419 SCV004224281 uncertain significance not provided 2023-01-17 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003965014 SCV004782351 likely benign FANCA-related condition 2022-03-09 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).
ITMI RCV000120940 SCV000085108 not provided not specified 2013-09-19 no assertion provided reference population

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