ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.1812_1813AG[1] (p.Glu605fs) (rs759899153)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000529668 SCV000626153 pathogenic Fanconi anemia 2017-07-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu605Valfs*7) in the FANCA gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs759899153, ExAC 0.01%). This variant has not been reported in the literature in individuals with FANCA-related disease. Loss-of-function variants in FANCA are known to be pathogenic (PMID: 19367192). For these reasons, this variant has been classified as Pathogenic.
Leiden Open Variation Database RCV001256369 SCV001425802 uncertain significance Fanconi anemia, complementation group A 2020-02-28 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach.

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