ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.3532G>A (p.Glu1178Lys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV002292246 SCV002584729 uncertain significance Fanconi anemia complementation group A 2022-07-12 criteria provided, single submitter clinical testing The FANCA c.3532G>A (p.Glu1178Lys) missense change is absent in gnomAD v2.1.1 (https://gnomad.broadinstitute.org/). The in silico tool REVEL predicts a deleterious effect on protein function, but to our knowledge this prediction has not been confirmed by functional studies. To our knowledge, this variant has not been reported in individuals with Fanconi anemia. In summary, the evidence currently available is insufficient to determine the clinical significance of this variant. It has therefore been classified as of uncertain significance.

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