ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.1615del (p.Asp539fs) (rs778507965)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001046987 SCV001210914 pathogenic Fanconi anemia 2019-07-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asp539Thrfs*66) in the FANCA gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs778507965, ExAC 0.01%). This variant has been observed in homozygous status in individuals affected with Fanconi anemia (PMID: 9371798, 10094191). The FANCA gene is also known as FAA gene in the literature. ClinVar contains an entry for this variant (Variation ID: 3443). Loss-of-function variants in FANCA are known to be pathogenic (PMID: 19367192). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000003612 SCV000023770 pathogenic Fanconi anemia, complementation group A 1999-08-01 no assertion criteria provided literature only

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