ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.283+1G>T (rs1232171121)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671233 SCV000796188 likely pathogenic Fanconi anemia, complementation group A 2017-12-04 criteria provided, single submitter clinical testing
Invitae RCV000806911 SCV000946932 pathogenic Fanconi anemia 2018-08-03 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 3 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). This variant has been observed on the opposite chromosome (in trans) from a pathogenic variant in an individual with clinical features of Fanconi anemia (Invitae). This finding is consistent with autosomal recessive inheritance, and suggests that this variant contributes to disease. 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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