Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000205596 | SCV000259793 | uncertain significance | Fanconi anemia | 2021-10-08 | criteria provided, single submitter | clinical testing | This sequence change replaces histidine with aspartic acid at codon 37 of the FANCC protein (p.His37Asp). The histidine residue is highly conserved and there is a moderate physicochemical difference between histidine and aspartic acid. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with FANCC-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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 | RCV001017291 | SCV001178351 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-03-16 | criteria provided, single submitter | clinical testing | The p.H37D variant (also known as c.109C>G), located in coding exon 1 of the FANCC gene, results from a C to G substitution at nucleotide position 109. The histidine at codon 37 is replaced by aspartic acid, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. 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. |
| Natera, |
RCV001276598 | SCV001463025 | uncertain significance | Fanconi anemia complementation group C | 2019-02-08 | no assertion criteria provided | clinical testing |