ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.4015del (p.Leu1339fs) (rs762902309)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Individualized Medicine,Mayo Clinic RCV000190642 SCV000245685 likely pathogenic Fanconi anemia, complementation group A 2014-01-01 criteria provided, single submitter research
Counsyl RCV000190642 SCV000486569 likely pathogenic Fanconi anemia, complementation group A 2016-11-02 criteria provided, single submitter clinical testing
Invitae RCV001043860 SCV001207627 pathogenic Fanconi anemia 2019-04-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu1339Serfs*24) in the FANCA gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs762902309, ExAC 0.002%). This variant has been observed in combination with another FANCA variant in individuals affected with Fanconi anemia or as heterozygous in an individual affected with breast cancer (PMID: 10521298, 26296701, 29098742). ClinVar contains an entry for this variant (Variation ID: 208638). 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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