ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.514C>G (p.Gln172Glu)

dbSNP: rs769998628
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002010637 SCV002295218 uncertain significance Fanconi anemia 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces glutamine with glutamic acid at codon 172 of the FANCC protein (p.Gln172Glu). The glutamine residue is moderately conserved and there is a small physicochemical difference between glutamine and glutamic acid. This variant is present in population databases (rs769998628, ExAC 0.002%). This variant has not been reported in the literature in individuals affected with FANCC-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
Ambry Genetics RCV002337119 SCV002642367 uncertain significance Hereditary cancer-predisposing syndrome 2021-12-17 criteria provided, single submitter clinical testing The p.Q172E variant (also known as c.514C>G), located in coding exon 5 of the FANCC gene, results from a C to G substitution at nucleotide position 514. The glutamine at codon 172 is replaced by glutamic acid, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. 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.

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