ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.2029G>A (p.Val677Met)

gnomAD frequency: 0.00011  dbSNP: rs767396631
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000630911 SCV000751884 likely benign Fanconi anemia 2024-12-12 criteria provided, single submitter clinical testing
GeneDx RCV001756040 SCV001988363 uncertain significance not provided 2025-02-04 criteria provided, single submitter clinical testing Reported as a variant of uncertain significance in an individual with pancreatic cancer (PMID: 28767289, 32659497); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 28767289, 32659497)
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV000630911 SCV002032295 uncertain significance Fanconi anemia 2021-11-17 criteria provided, single submitter clinical testing The FANCA c.2029G>A (p.Val677Met) missense change has a maximum subpopulation frequency of 0.019% in gnomAD v2.1.1 (https://gnomad.broadinstitute.org/variant/16-89838208-C-T?dataset=gnomad_r2_1). Six of seven in silico tools predict a benign effect of this variant on protein function (BP4), but to our knowledge these predictions have not been confirmed by functional assays. This variant has been reported in an individual with pancreatic ductal adenocarcinoma (PMID: 28767289), as well as in a non-cancer control individual (PMID: 29641532). To our knowledge, this variant has not been reported in individuals with Fanconi anemia. In summary, this variant meets criteria to be classified as of uncertain significance based on the ACMG/AMP criteria: BP4.
Sema4, Sema4 RCV000630911 SCV002534937 uncertain significance Fanconi anemia 2021-09-30 criteria provided, single submitter curation
Fulgent Genetics, Fulgent Genetics RCV001271605 SCV002800168 uncertain significance Fanconi anemia complementation group A 2024-02-07 criteria provided, single submitter clinical testing
Natera, Inc. RCV001271605 SCV001452872 uncertain significance Fanconi anemia complementation group A 2020-09-16 no assertion criteria provided clinical testing

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