ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.329T>C (p.Leu110Pro)

gnomAD frequency: 0.00001  dbSNP: rs777731560
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000551381 SCV000626246 uncertain significance Fanconi anemia 2021-08-26 criteria provided, single submitter clinical testing This sequence change replaces leucine with proline at codon 110 of the FANCC protein (p.Leu110Pro). The leucine residue is weakly conserved and there is a moderate physicochemical difference between leucine and proline. This variant is present in population databases (rs777731560, ExAC 0.02%). This variant has not been reported in the literature in individuals affected with FANCC-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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 RCV002323916 SCV002611226 uncertain significance Hereditary cancer-predisposing syndrome 2021-02-04 criteria provided, single submitter clinical testing The p.L110P variant (also known as c.329T>C), located in coding exon 3 of the FANCC gene, results from a T to C substitution at nucleotide position 329. The leucine at codon 110 is replaced by proline, an amino acid with similar properties. This amino acid position is not 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003478126 SCV004218674 uncertain significance not provided 2023-05-11 criteria provided, single submitter clinical testing The variant has not been reported in the published literature. The frequency of this variant in the general population, 0.000087 (3/34566 chromosomes, http://gnomad.broadinstitute.org), is uninformative in assessment of its pathogenicity. Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded conflicting predictions that this variant is benign or damaging. Based on the available information, we are unable to determine the clinical significance of this variant.
Natera, Inc. RCV000551381 SCV002081286 uncertain significance Fanconi anemia 2020-09-16 no assertion criteria provided clinical testing

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