ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.1000_1002del (p.Glu334del)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003080264 SCV003481714 uncertain significance Fanconi anemia complementation group O 2022-03-06 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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. This variant has not been reported in the literature in individuals affected with RAD51C-related conditions. This variant, c.1000_1002del, results in the deletion of 1 amino acid(s) of the RAD51C protein (p.Glu334del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency).

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