ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.2738A>C (p.His913Pro) (rs1302083447)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671893 SCV000796926 likely pathogenic Fanconi anemia, complementation group A 2018-01-04 criteria provided, single submitter clinical testing
Molecular Diagnostics Laboratory, M Health: University of Minnesota RCV000671893 SCV000891230 likely pathogenic Fanconi anemia, complementation group A 2018-07-02 criteria provided, single submitter clinical testing
Invitae RCV000796523 SCV000936041 pathogenic Fanconi anemia 2019-09-05 criteria provided, single submitter clinical testing This sequence change replaces histidine with proline at codon 913 of the FANCA protein (p.His913Pro). The histidine residue is weakly conserved and there is a moderate physicochemical difference between histidine and proline. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with Fanconi anemia (PMID: 29269525, 29098742). Experimental studies have shown that this missense change results in a protein that cannot properly translocate to the nucleus or mediate mitochondrial activity (PMID: 29269525). For these reasons, this variant has been classified as Pathogenic.

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