Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001022419 | SCV001184152 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-05-31 | criteria provided, single submitter | clinical testing | The p.P147T variant (also known as c.439C>A), located in coding exon 4 of the FANCC gene, results from a C to A substitution at nucleotide position 439. The proline at codon 147 is replaced by threonine, an amino acid with highly similar properties. This amino acid position is 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. |
Gene |
RCV004589985 | SCV005080133 | uncertain significance | not provided | 2024-02-16 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: Gordon2000[Book]) |
Natera, |
RCV001276459 | SCV001462830 | uncertain significance | Fanconi anemia complementation group C | 2020-09-16 | no assertion criteria provided | clinical testing |