ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.460G>C (p.Val154Leu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002342449 SCV002635480 uncertain significance Hereditary cancer-predisposing syndrome 2022-09-04 criteria provided, single submitter clinical testing The p.V154L variant (also known as c.460G>C), located in coding exon 5 of the FANCC gene, results from a G to C substitution at nucleotide position 460. The valine at codon 154 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003102607 SCV003025776 uncertain significance Fanconi anemia 2022-06-07 criteria provided, single submitter clinical testing 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 not present in population databases (gnomAD no frequency). This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 154 of the FANCC protein (p.Val154Leu).

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