ClinVar Miner

Submissions for variant NM_022725.4(FANCF):c.332T>C (p.Leu111Pro)

gnomAD frequency: 0.00001  dbSNP: rs373385251
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001238441 SCV001411252 uncertain significance Fanconi anemia 2023-12-23 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 111 of the FANCF protein (p.Leu111Pro). This variant is present in population databases (rs373385251, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with FANCF-related conditions. ClinVar contains an entry for this variant (Variation ID: 964253). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt FANCF protein function with a positive predictive value of 80%. 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 RCV001819936 SCV002069394 uncertain significance not specified 2018-08-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002491774 SCV002780589 uncertain significance Fanconi anemia complementation group F 2022-01-27 criteria provided, single submitter clinical testing

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