ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.2749C>T (p.Arg917Ter)

dbSNP: rs1060501880
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000465485 SCV000547762 pathogenic Fanconi anemia 2023-05-11 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 408188). This premature translational stop signal has been observed in individuals with Fanconi anemia (PMID: 26799702, 29098742). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg917*) in the FANCA gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FANCA are known to be pathogenic (PMID: 19367192).
CeGaT Center for Human Genetics Tuebingen RCV001091061 SCV001246905 pathogenic not provided 2019-08-01 criteria provided, single submitter clinical testing
Institute of Human Genetics, Cologne University RCV003243136 SCV003936905 pathogenic Fanconi anemia complementation group A 2022-12-22 criteria provided, single submitter clinical testing
Baylor Genetics RCV003243136 SCV004196574 pathogenic Fanconi anemia complementation group A 2023-03-14 criteria provided, single submitter clinical testing
Natera, Inc. RCV000465485 SCV002092583 pathogenic Fanconi anemia 2021-08-23 no assertion criteria provided clinical testing

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