ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.871T>C (p.Phe291Leu)

gnomAD frequency: 0.00001  dbSNP: rs769649289
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000709086 SCV000838348 uncertain significance Fanconi anemia complementation group C 2018-07-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002369978 SCV002685807 uncertain significance Hereditary cancer-predisposing syndrome 2023-08-23 criteria provided, single submitter clinical testing The p.F291L variant (also known as c.871T>C), located in coding exon 8 of the FANCC gene, results from a T to C substitution at nucleotide position 871. The phenylalanine at codon 291 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. 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.
Invitae RCV003117511 SCV003784084 uncertain significance Fanconi anemia 2022-05-06 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 291 of the FANCC protein (p.Phe291Leu). This variant is present in population databases (rs769649289, gnomAD 0.004%). 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: 584739). 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 C15"). 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.

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