ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.3239+1dup (rs766989857)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000821969 SCV000962745 pathogenic Fanconi anemia 2019-01-08 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 32 of the FANCA gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is present in population databases (rs766989857, ExAC 0.01%). This variant has been observed in individuals with Fanconi anemia (PMID: 21659346, Invitae). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. 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.

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