ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.1359+1G>C

dbSNP: rs1555561294
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672477 SCV000797584 pathogenic Fanconi anemia complementation group A 2018-01-31 criteria provided, single submitter clinical testing
Invitae RCV002532125 SCV003481404 pathogenic Fanconi anemia 2022-11-17 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: 556465). This variant is also known as IVS14 + 1G>C. Disruption of this splice site has been observed in individuals with Fanconi anemia (PMID: 9399890, 24584348). This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 14 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).
Baylor Genetics RCV000672477 SCV004196645 pathogenic Fanconi anemia complementation group A 2022-01-11 criteria provided, single submitter clinical testing
Leiden Open Variation Database RCV000672477 SCV001425787 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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