ClinVar Miner

Submissions for variant NM_002875.5(RAD51):c.896+6del

dbSNP: rs544409089
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001822517 SCV002065247 likely benign not specified 2021-04-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003698875 SCV004469478 uncertain significance not provided 2024-09-20 criteria provided, single submitter clinical testing This sequence change falls in intron 9 of the RAD51 gene. It does not directly change the encoded amino acid sequence of the RAD51 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs544409089, gnomAD 0.07%), and has an allele count higher than expected for a pathogenic variant. This variant has not been reported in the literature in individuals affected with RAD51-related conditions. ClinVar contains an entry for this variant (Variation ID: 1337919). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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.

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