ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.3581C>T (p.Pro1194Leu) (rs1555536390)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000630873 SCV000751844 uncertain significance Fanconi anemia 2017-12-08 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 1194 of the FANCA protein (p.Pro1194Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual affected with Fanconi anemia (PMID: 15523645). An experimental study has shown that GM6914 FANCA-deficient fibroblasts cells expressing this missense change failed to correct mitomycin (MMC) sensitivity or  induce FANCD2 monoubiquitination in respoonse to MMC treatment (PMID: 15523645). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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