ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.277C>T (p.Gln93Ter)

dbSNP: rs1555593670
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000564536 SCV000667107 pathogenic Hereditary cancer-predisposing syndrome 2016-01-06 criteria provided, single submitter clinical testing The p.Q93* pathogenic mutation (also known as c.277C>T), located in coding exon 2 of the RAD51C gene, results from a C to T substitution at nucleotide position 277. This changes the amino acid from a glutamine to a stop codon within coding exon 2. Since premature stop codons are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294).
Labcorp Genetics (formerly Invitae), Labcorp RCV001867866 SCV002229193 pathogenic Fanconi anemia complementation group O 2024-01-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln93*) 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, 29278735). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with RAD51C-related conditions. ClinVar contains an entry for this variant (Variation ID: 482162). RNA analysis performed to evaluate the impact of this premature translational stop signal on mRNA splicing indicates it does not significantly alter splicing (Invitae). For these reasons, this variant has been classified as Pathogenic.
PreventionGenetics, part of Exact Sciences RCV004527660 SCV004109912 pathogenic RAD51C-related disorder 2022-12-27 criteria provided, single submitter clinical testing The RAD51C c.277C>T variant is predicted to result in premature protein termination (p.Gln93*). To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. It is interpreted as pathogenic in ClinVar (https://preview.ncbi.nlm.nih.gov/clinvar/variation/482162/). Nonsense variants in RAD51C are expected to be pathogenic. This variant is interpreted as pathogenic.

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