ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.1655A>G (p.Lys552Arg)

dbSNP: rs1197938479
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001206075 SCV001377363 uncertain significance Fanconi anemia 2022-06-11 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 552 of the FANCC protein (p.Lys552Arg). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with FANCC-related conditions. ClinVar contains an entry for this variant (Variation ID: 937123). 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.
GeneDx RCV001732071 SCV001982668 uncertain significance not provided 2021-10-15 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (Lek 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Genetic Services Laboratory, University of Chicago RCV001819893 SCV002067617 uncertain significance not specified 2018-11-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV002402596 SCV002706017 uncertain significance Hereditary cancer-predisposing syndrome 2021-08-01 criteria provided, single submitter clinical testing The p.K552R variant (also known as c.1655A>G), located in coding exon 14 of the FANCC gene, results from an A to G substitution at nucleotide position 1655. The lysine at codon 552 is replaced by arginine, 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.
Natera, Inc. RCV001206075 SCV002081117 uncertain significance Fanconi anemia 2020-02-26 no assertion criteria provided clinical testing

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