Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000630830 | SCV000751798 | uncertain significance | Fanconi anemia | 2022-07-14 | criteria provided, single submitter | clinical testing | This sequence change replaces serine, which is neutral and polar, with threonine, which is neutral and polar, at codon 279 of the FANCC protein (p.Ser279Thr). This variant is present in population databases (rs757190154, gnomAD 0.01%). 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: 526320). 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; 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. |
Gene |
RCV001766341 | SCV002000957 | uncertain significance | not provided | 2023-07-25 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter 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 | RCV002438645 | SCV002681515 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-03-16 | criteria provided, single submitter | clinical testing | The p.S279T variant (also known as c.835T>A), located in coding exon 7 of the FANCC gene, results from a T to A substitution at nucleotide position 835. The serine at codon 279 is replaced by threonine, an amino acid with 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. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV002469224 | SCV002765924 | uncertain significance | not specified | 2022-11-24 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV001274476 | SCV002788051 | uncertain significance | Fanconi anemia complementation group C | 2022-03-28 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001274476 | SCV001458699 | uncertain significance | Fanconi anemia complementation group C | 2020-09-16 | no assertion criteria provided | clinical testing |