ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.262A>C (p.Lys88Gln)

gnomAD frequency: 0.00001  dbSNP: rs1060502519
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000477124 SCV000549968 uncertain significance Fanconi anemia 2022-06-29 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with glutamine, which is neutral and polar, at codon 88 of the FANCC protein (p.Lys88Gln). This variant is present in population databases (no rsID available, gnomAD 0.002%). 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: 409661). 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.
Genetic Services Laboratory, University of Chicago RCV000503113 SCV000594679 uncertain significance not specified 2015-10-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002429515 SCV002744661 uncertain significance Hereditary cancer-predisposing syndrome 2022-05-10 criteria provided, single submitter clinical testing The p.K88Q variant (also known as c.262A>C), located in coding exon 3 of the FANCC gene, results from an A to C substitution at nucleotide position 262. The lysine at codon 88 is replaced by glutamine, an amino acid with similar properties. This amino acid position is well 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.
Natera, Inc. RCV000477124 SCV002081290 uncertain significance Fanconi anemia 2021-07-19 no assertion criteria provided clinical testing

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