Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000522665 | SCV000621107 | likely pathogenic | not provided | 2018-09-26 | criteria provided, single submitter | clinical testing | This variant is denoted RAD51C c.706-1G>T or IVS4-1G>T and consists of a G>T nucleotidesubstitution at the -1 position of intron 4 of the RAD51C gene. This variant destroys a canonical splice acceptor siteand is predicted to cause abnormal gene splicing, leading to either an abnormal message that is subject to nonsense-mediated mRNA decay or to an abnormal protein product. This variant has not, to our knowledge, been published inthe literature. Based on the currently available information, we consider RAD51C c.706-1G>T to be a likely pathogenicvariant. |
Ambry Genetics | RCV000574581 | SCV000671878 | likely pathogenic | Hereditary cancer-predisposing syndrome | 2022-11-15 | criteria provided, single submitter | clinical testing | The c.706-1G>T intronic variant results from a G to T substitution one nucleotide upstream from coding exon 5 of the RAD51C gene. 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 and will result in the creation or strengthening of a novel splice acceptor site. RNA studies have demonstrated that this alteration results in abnormal splicing in the set of samples tested (Ambry internal data). Alterations that disrupt the canonical splice site are expected to cause aberrant splicing, resulting in an abnormal protein or a transcript that is subject to nonsense-mediated mRNA decay. As such, this alteration is classified as likely pathogenic. |