ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.673G>A (p.Glu225Lys)

dbSNP: rs374176091
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000530540 SCV000626256 uncertain significance Fanconi anemia 2022-07-12 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 225 of the FANCC protein (p.Glu225Lys). This variant is not present in population databases (gnomAD no frequency). 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: 456166). 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: "Probably 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 RCV002377001 SCV002667363 uncertain significance Hereditary cancer-predisposing syndrome 2022-09-26 criteria provided, single submitter clinical testing The p.E225K variant (also known as c.673G>A), located in coding exon 6 of the FANCC gene, results from a G to A substitution at nucleotide position 673. The glutamic acid at codon 225 is replaced by lysine, an amino acid with 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.
Fulgent Genetics, Fulgent Genetics RCV002476093 SCV002776990 uncertain significance Fanconi anemia complementation group C 2022-01-27 criteria provided, single submitter clinical testing
GeneDx RCV003148776 SCV003836830 uncertain significance not provided 2022-08-31 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); 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; This variant is associated with the following publications: (PMID: Gordon2000[Book], 31747416)
Natera, Inc. RCV000530540 SCV002081232 uncertain significance Fanconi anemia 2021-02-18 no assertion criteria provided clinical testing

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