ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.2778+1G>A (rs140180549)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000811488 SCV000951756 pathogenic Fanconi anemia 2018-10-30 criteria provided, single submitter clinical testing 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. This variant is not present in population databases (ExAC no frequency). Disruption of this splice site has been observed in several individuals affected with Fanconi anemia (PMID: 24584348, 29098742, 23067021). Experimental studies have shown that this splice change results in skipping of exon 28 (PMID: 24584348). 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). For these reasons, this variant has been classified as Pathogenic.
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare RCV000786986 SCV000925892 pathogenic Fanconi anemia, complementation group A 2018-11-23 no assertion criteria provided clinical testing

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