ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.142_144del (p.Lys48del)

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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 RCV003617533 SCV004457636 uncertain significance Fanconi anemia complementation group O 2023-04-19 criteria provided, single submitter clinical testing 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. Studies have shown this variant is associated with multiple RNA products involving skipping of partial exon 1, but one or more of the resulting mRNA isoform(s) may be naturally occurring (Invitae). 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.142_144del, results in the deletion of 1 amino acid(s) of the RAD51C protein (p.Lys48del), but otherwise preserves the integrity of the reading frame.

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