ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.792+1G>A

dbSNP: rs2143615250
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001388440 SCV001589438 pathogenic Fanconi anemia 2020-05-29 criteria provided, single submitter clinical testing 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 this variant disrupts mRNA splicing (PMID: 30031030). This variant has been observed in an individual with Fanconi anemia with the variant in trans (on the opposite chromosome) from a pathogenic variant (PMID: 30031030). This variant is not present in population databases (ExAC no frequency). This sequence change affects a donor splice site in intron 8 of the FANCA gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic.

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