ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.1111_1114TTGG[1] (p.Val372fs) (rs397507552)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000463426 SCV000547753 pathogenic Fanconi anemia 2020-01-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val372Alafs*42) in the FANCA gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs397507552, ExAC 0.01%). This variant has been reported in the literature in many individuals affected with Fanconi anemia, and is known to be a relatively common cause of the disease (PMID: 15643609, 8896564, 21273304, 17924555, 19367192, 24584348). This variant is also known as 1159-1162delTTGG in the literature. ClinVar contains an entry for this variant (Variation ID: 3440). Loss-of-function variants in FANCA are known to be pathogenic (PMID: 19367192). For these reasons, this variant has been classified as Pathogenic.
Genetic Services Laboratory, University of Chicago RCV000003609 SCV000594661 pathogenic Fanconi anemia, complementation group A 2015-09-30 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV001091063 SCV001246907 pathogenic not provided 2020-02-01 criteria provided, single submitter clinical testing
OMIM RCV000003609 SCV000023767 pathogenic Fanconi anemia, complementation group A 1996-11-01 no assertion criteria provided literature only
GeneReviews RCV000003609 SCV000057803 pathologic Fanconi anemia, complementation group A 2011-02-10 no assertion criteria provided curation Converted during submission to Pathogenic.
Counsyl RCV000003609 SCV000485663 pathogenic Fanconi anemia, complementation group A 2016-08-16 no assertion criteria provided clinical testing

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