ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.2602-2A>T

dbSNP: rs1555545592
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671414 SCV000796388 pathogenic Fanconi anemia complementation group A 2017-12-13 criteria provided, single submitter clinical testing
Invitae RCV002531281 SCV003443669 pathogenic Fanconi anemia 2022-11-22 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 555572). Disruption of this splice site has been observed in individuals with Fanconi anemia (PMID: 10090479, 28102861). This variant is not present in population databases (gnomAD no frequency). This sequence change affects an acceptor splice site in intron 27 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).
Leiden Open Variation Database RCV000671414 SCV001425831 pathogenic Fanconi anemia complementation group A 2020-02-28 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach.

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