ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.1645G>C (p.Glu549Gln)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002394974 SCV002703425 uncertain significance Hereditary cancer-predisposing syndrome 2022-09-04 criteria provided, single submitter clinical testing The p.E549Q variant (also known as c.1645G>C), located in coding exon 14 of the FANCC gene, results from a G to C substitution at nucleotide position 1645. The glutamic acid at codon 549 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV003230294 SCV003928124 uncertain significance Fanconi anemia complementation group C 2023-04-20 criteria provided, single submitter clinical testing The FANCC c.1645G>C (p.Glu549Gln) missense change is absent in gnomAD v2.1.1 (https://gnomad.broadinstitute.org/). The in silico tool REVEL predicts a benign 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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