Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002376828 | SCV002693172 | likely pathogenic | Hereditary cancer-predisposing syndrome | 2022-08-31 | criteria provided, single submitter | clinical testing | The p.Y327* variant (also known as c.981C>G), located in coding exon 8 of the RAD51C gene, results from a C to G substitution at nucleotide position 981. This changes the amino acid from a tyrosine to a stop codon within coding exon 8. This alteration occurs at the 3' terminus of theRAD51C gene, is not expected to trigger nonsense-mediated mRNA decay, and only impacts the last 50 amino acids of the protein. However, premature stop codons are typically deleterious in nature and the impacted region is critical for protein function (Ambry internal data). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). Based on the majority of available evidence to date, this variant is likely to be pathogenic. |
Labcorp Genetics |
RCV003094879 | SCV003328525 | pathogenic | Fanconi anemia complementation group O | 2022-03-10 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with RAD51C-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr327*) in the RAD51C gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RAD51C are known to be pathogenic (PMID: 20400964, 21990120, 24800917). |