ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.907G>T (p.Glu303Ter)

dbSNP: rs2143961266
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001866089 SCV002235986 pathogenic Fanconi anemia complementation group O 2022-06-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu303*) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with breast cancer (PMID: 32658311). ClinVar contains an entry for this variant (Variation ID: 1209850). 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.
Medical Genetics Laboratory, Umraniye Training and Research Hospital, University of Health Sciences RCV001579300 SCV001805834 pathogenic Breast carcinoma 2021-08-21 no assertion criteria provided clinical testing Invasive Breast Carcinoma grade III EST= - PRO = - HER2 = - KI = 50%

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