ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.2778+1G>C

dbSNP: rs140180549
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001389973 SCV001591535 pathogenic Fanconi anemia 2020-01-31 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in FANCA are known to be pathogenic (PMID: 19367192). Experimental studies have shown that disruption of this splice site affects mRNA splicing (PMID: 24584348). Disruption of this splice site has been observed in individual(s) with Fanconi anemia (PMID: 23067021, 24584348). This variant is not present in population databases (ExAC no frequency). This sequence change affects a donor splice site in intron 28 of the FANCA gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.
Leiden Open Variation Database RCV001256602 SCV001426094 pathogenic Fanconi anemia complementation group A 2020-02-28 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Myungshin Kim.

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