Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000672742 | SCV000797878 | likely pathogenic | Fanconi anemia complementation group C | 2018-02-14 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002388182 | SCV002703893 | likely pathogenic | Hereditary cancer-predisposing syndrome | 2021-02-22 | criteria provided, single submitter | clinical testing | The c.1534-1G>T intronic variant results from a G to T substitution one nucleotide upstream from coding exon 14 of the FANCC gene. This alteration occurs at the 3' terminus of the FANCC gene, is not expected to trigger nonsense-mediated mRNA decay, and only impacts the last 8% of the protein. The exact functional effect of this alteration is unknown; however, the impacted region is critical for protein function (Ambry internal data). This nucleotide position is highly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will weaken the native splice acceptor site. Based on the majority of available evidence to date, this variant is likely to be pathogenic. |