ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.1456C>A (p.Leu486Met)

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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 RCV002838002 SCV003213535 uncertain significance Fanconi anemia 2022-06-22 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 486 of the FANCC protein (p.Leu486Met). 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. 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with FANCC-related conditions. This variant is present in population databases (rs761050718, gnomAD 0.004%).
Ambry Genetics RCV003167814 SCV003859419 uncertain significance Hereditary cancer-predisposing syndrome 2023-03-03 criteria provided, single submitter clinical testing The p.L486M variant (also known as c.1456C>A), located in coding exon 13 of the FANCC gene, results from a C to A substitution at nucleotide position 1456. The leucine at codon 486 is replaced by methionine, 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.

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