ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.595dup (p.Leu199fs)

dbSNP: rs1057519366
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Predisposition to Colorectal Cancer Group, Institut d’Investigacions Biomediques August Pi i Sunyer RCV000416810 SCV000262603 likely pathogenic Carcinoma of colon 2015-11-01 criteria provided, single submitter clinical testing Variant detected by whole exome sequencing in a family presenting aggregation for colorectal cancer
Ambry Genetics RCV003165503 SCV003859384 pathogenic Hereditary cancer-predisposing syndrome 2022-12-16 criteria provided, single submitter clinical testing The c.595dupC pathogenic mutation, located in coding exon 6 of the FANCC gene, results from a duplication of C at nucleotide position 595, causing a translational frameshift with a predicted alternate stop codon (p.L199Pfs*12). This alteration has been identified by whole exome sequencing in a family affected with colorectal cancer (Esteban-Jurado C et al. Eur J Hum Genet, 2016 Oct;24:1501-5). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
GeneDx RCV003227715 SCV003924580 likely pathogenic not provided 2022-11-10 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Observed in a father and daughter with colorectal cancer (Esteban-Jurado et al., 2016); This variant is associated with the following publications: (PMID: 27165003)

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