Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000522448 | SCV000616714 | uncertain significance | not provided | 2022-12-28 | 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]) |
Ambry Genetics | RCV001026382 | SCV001188750 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-05-24 | criteria provided, single submitter | clinical testing | The p.L247F variant (also known as c.739C>T), located in coding exon 7 of the FANCC gene, results from a C to T substitution at nucleotide position 739. The leucine at codon 247 is replaced by phenylalanine, an amino acid with highly similar properties. This alteration was identified in an individual diagnosed with ovarian cancer (Song H et al. J Med Genet, 2021 05;58:305-313). This amino acid position is highly 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. |
Centre for Mendelian Genomics, |
RCV001198452 | SCV001369386 | uncertain significance | Fanconi anemia complementation group C | 2019-10-30 | criteria provided, single submitter | clinical testing | This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PM2,PP3. |
Institute for Clinical Genetics, |
RCV000522448 | SCV002010152 | uncertain significance | not provided | 2021-11-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001857936 | SCV002148153 | uncertain significance | Fanconi anemia | 2022-05-24 | criteria provided, single submitter | clinical testing | This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 247 of the FANCC protein (p.Leu247Phe). This variant is not present in population databases (gnomAD no frequency). 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: 449020). 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: "Benign"; Align-GVGD: "Class C0"). 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. |
Natera, |
RCV001198452 | SCV001458705 | uncertain significance | Fanconi anemia complementation group C | 2020-09-16 | no assertion criteria provided | clinical testing |