ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.437C>G (p.Ser146Cys)

gnomAD frequency: 0.00042  dbSNP: rs141367100
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001050638 SCV001214757 likely benign Fanconi anemia 2025-01-23 criteria provided, single submitter clinical testing
Baylor Genetics RCV001331009 SCV001522902 uncertain significance Fanconi anemia complementation group A 2020-11-20 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Quest Diagnostics Nichols Institute San Juan Capistrano RCV002479313 SCV002774560 uncertain significance not provided 2021-07-20 criteria provided, single submitter clinical testing
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV001331009 SCV005402112 uncertain significance Fanconi anemia complementation group A 2023-12-25 criteria provided, single submitter clinical testing The FANCA c.437C>G (p.Ser146Cys) missense change has a maximum subpopulation frequency of 0.1% 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 clinical significance of this variant. It has therefore been classified as of uncertain significance.
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV001331009 SCV005442215 uncertain significance Fanconi anemia complementation group A 2024-12-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001331009 SCV005639551 uncertain significance Fanconi anemia complementation group A 2024-01-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV001050638 SCV002090766 uncertain significance Fanconi anemia 2020-01-17 no assertion criteria provided clinical testing

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