ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.705+1G>T

dbSNP: rs876658644
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Hereditary Cancer Group, L’Institut d'Investigació Biomèdica de Bellvitge RCV001779206 SCV001623541 likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 3 2021-05-03 criteria provided, single submitter curation
Labcorp Genetics (formerly Invitae), Labcorp RCV002554101 SCV003229849 pathogenic Fanconi anemia complementation group O 2025-01-15 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 4 of the RAD51C gene. RNA analysis indicates that disruption of this splice site induces altered splicing and may result in an absent or altered protein product. This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individual(s) with personal and family history of breast cancer (PMID: 29255180). ClinVar contains an entry for this variant (Variation ID: 1098906). Studies have shown that disruption of this splice site alters mRNA splicing and is expected to lead to the loss of protein expression (PMID: 35740625). For these reasons, this variant has been classified as Pathogenic.

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