Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV001004550 | SCV001163623 | pathogenic | Fanconi anemia complementation group C | criteria provided, single submitter | clinical testing | ||
Invitae | RCV001216645 | SCV001388450 | pathogenic | Fanconi anemia | 2023-11-24 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Glu225*) in the FANCC gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FANCC are known to be pathogenic (PMID: 17924555). This variant is present in population databases (rs374176091, gnomAD 0.009%). 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: 813470). For these reasons, this variant has been classified as Pathogenic. |
Ambry Genetics | RCV002372728 | SCV002667366 | pathogenic | Hereditary cancer-predisposing syndrome | 2022-04-11 | criteria provided, single submitter | clinical testing | The p.E225* pathogenic mutation (also known as c.673G>T), located in coding exon 6 of the FANCC gene, results from a G to T substitution at nucleotide position 673. This changes the amino acid from a glutamic acid to a stop codon within coding exon 6. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. |