Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000707263 | SCV000836353 | uncertain significance | Fanconi anemia | 2022-03-14 | criteria provided, single submitter | clinical testing | This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 16 of the FANCC protein (p.Met16Val). 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: 583038). 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. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV002469272 | SCV002765926 | uncertain significance | not specified | 2022-11-24 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002493251 | SCV002789055 | uncertain significance | Fanconi anemia complementation group C | 2022-05-11 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002532865 | SCV003633348 | uncertain significance | Inborn genetic diseases | 2022-06-24 | criteria provided, single submitter | clinical testing | The c.46A>G (p.M16V) alteration is located in exon 2 (coding exon 1) of the FANCC gene. This alteration results from a A to G substitution at nucleotide position 46, causing the methionine (M) at amino acid position 16 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Natera, |
RCV000707263 | SCV002081316 | uncertain significance | Fanconi anemia | 2018-07-29 | no assertion criteria provided | clinical testing |