Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000115359 | SCV000149268 | uncertain significance | not provided | 2013-12-24 | criteria provided, single submitter | clinical testing | This variant is denoted FANCC c.708G>A at the cDNA level, p.Met236Ile (M236I) at the protein level, and results in the change of a Methionine to an Isoleucine (ATG>ATA). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. FANCC Met236Ile was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. This variant is a conservative substitution of one neutral non-polar amino acid for another, altering a position that is highly variable throughout evolution and is not located in a known functional domain. In silico analyses predict this variant to have a benign effect on protein structure and function. Based on the currently available information, we consider FANCC Met236Ile to be a variant of uncertain significance. |
Ambry Genetics | RCV003162537 | SCV003880589 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-01-01 | criteria provided, single submitter | clinical testing | The p.M236I variant (also known as c.708G>A), located in coding exon 7 of the FANCC gene, results from a G to A substitution at nucleotide position 708. The methionine at codon 236 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is conserved. 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. |