ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.904+4G>T

dbSNP: rs2048894318
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001308676 SCV001498138 uncertain significance Fanconi anemia complementation group O 2021-09-18 criteria provided, single submitter clinical testing Nucleotide substitutions within 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 may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. 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 with RAD51C-related conditions. This sequence change falls in intron 6 of the RAD51C gene. It does not directly change the encoded amino acid sequence of the RAD51C protein, but it affects a nucleotide within the consensus splice site of the intron. This variant is not present in population databases (ExAC no frequency).
Fulgent Genetics, Fulgent Genetics RCV002476423 SCV002784980 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 3; Fanconi anemia complementation group O 2021-11-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV003166762 SCV003861289 uncertain significance Hereditary cancer-predisposing syndrome 2023-02-22 criteria provided, single submitter clinical testing The c.904+4G>T intronic variant results from a G to T substitution 4 nucleotides after coding exon 6 in the RAD51C gene. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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