Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000569363 | SCV000673351 | pathogenic | Hereditary cancer-predisposing syndrome | 2017-08-08 | criteria provided, single submitter | clinical testing | The p.Q316* pathogenic mutation (also known as c.946C>T), located in coding exon 9 of the FANCC gene, results from a C to T substitution at nucleotide position 946. This changes the amino acid from a glutamine to a stop codon within coding exon 9. 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. |
| Invitae | RCV000818488 | SCV000959103 | pathogenic | Fanconi anemia | 2023-04-28 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln316*) 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). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 485554). This variant has not been reported in the literature in individuals affected with FANCC-related conditions. This variant is present in population databases (rs776529713, gnomAD 0.0009%). |