ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.1226-2A>G

gnomAD frequency: 0.00001  dbSNP: rs773906241
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000507098 SCV000603556 pathogenic not specified 2017-04-10 criteria provided, single submitter clinical testing
Counsyl RCV000667573 SCV000792050 likely pathogenic Fanconi anemia complementation group A 2017-06-08 criteria provided, single submitter clinical testing
Invitae RCV000701341 SCV000830138 pathogenic Fanconi anemia 2024-01-09 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 13 of the FANCA gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in FANCA are known to be pathogenic (PMID: 19367192). This variant is present in population databases (rs773906241, gnomAD 0.01%). Disruption of this splice site has been observed in individuals with Fanconi anemia (PMID: 29098742; Invitae). ClinVar contains an entry for this variant (Variation ID: 439688). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV000667573 SCV000894104 likely pathogenic Fanconi anemia complementation group A 2018-10-31 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000667573 SCV002022291 pathogenic Fanconi anemia complementation group A 2021-04-01 criteria provided, single submitter clinical testing
Baylor Genetics RCV000667573 SCV004196620 pathogenic Fanconi anemia complementation group A 2022-07-21 criteria provided, single submitter clinical testing
Leiden Open Variation Database RCV000667573 SCV001425653 pathogenic Fanconi anemia complementation group A 2020-02-28 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach.
Natera, Inc. RCV000701341 SCV002095057 pathogenic Fanconi anemia 2020-07-23 no assertion criteria provided clinical testing

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