ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.1771C>T (p.Arg591Ter)

dbSNP: rs753980264
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674201 SCV000799499 pathogenic Fanconi anemia complementation group A 2018-04-23 criteria provided, single submitter clinical testing
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota RCV000674201 SCV000889965 pathogenic Fanconi anemia complementation group A 2018-07-09 criteria provided, single submitter clinical testing
Invitae RCV001069523 SCV001234696 pathogenic Fanconi anemia 2023-10-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg591*) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Fanconi anemia (PMID: 9371798, 10521298, 21273304, 22778927, 29098742). ClinVar contains an entry for this variant (Variation ID: 557990). For these reasons, this variant has been classified as Pathogenic.
CeGaT Center for Human Genetics Tuebingen RCV003222094 SCV003917867 pathogenic not provided 2024-02-01 criteria provided, single submitter clinical testing FANCA: PVS1, PM2, PM3:Supporting
Baylor Genetics RCV000674201 SCV004196112 pathogenic Fanconi anemia complementation group A 2023-05-22 criteria provided, single submitter clinical testing
Leiden Open Variation Database RCV000674201 SCV001425670 pathogenic Fanconi anemia complementation group A 2020-02-28 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitters to LOVD: Arleen D. Auerbach, Johan de Winter, Sue Richards.

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