ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.358ACA[1] (p.Thr121del)

dbSNP: rs1555593808
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000569360 SCV000663762 uncertain significance Hereditary cancer-predisposing syndrome 2024-07-19 criteria provided, single submitter clinical testing The c.361_363delACA variant (also known as p.T121del) is located in coding exon 2 of the RAD51C gene. This variant results from an in-frame ACA deletion at nucleotide positions 361 to 363. This results in the in-frame deletion of a threonine at codon 121. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV000802080 SCV000941894 uncertain significance Fanconi anemia complementation group O 2023-08-22 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 480492). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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 variant, c.361_363del, results in the deletion of 1 amino acid(s) of the RAD51C protein (p.Thr121del), but otherwise preserves the integrity of the reading frame.

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