Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Illumina Laboratory Services, |
RCV001165845 | SCV001328093 | uncertain significance | Fanconi anemia complementation group C | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
| Invitae | RCV001859070 | SCV002126709 | uncertain significance | Fanconi anemia | 2021-04-23 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals with FANCC-related conditions. ClinVar contains an entry for this variant (Variation ID: 912565). This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with valine at codon 234 of the FANCC protein (p.Leu234Val). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and valine. 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: "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. |
| Ambry Genetics | RCV002365813 | SCV002661961 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-08-06 | criteria provided, single submitter | clinical testing | The p.L234V variant (also known as c.700C>G), located in coding exon 7 of the FANCC gene, results from a C to G substitution at nucleotide position 700. The leucine at codon 234 is replaced by valine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |