ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.965+5G>A (rs774586107)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000467585 SCV000550196 uncertain significance Fanconi anemia, complementation group O 2016-06-04 criteria provided, single submitter clinical testing This variant affects a highly conserved nucleotide within the consensus splice site of intron 7. The majority of introns (75%) have a G nucleotide at this position (PMID: 9536098). This variant is present in population databases (rs774586107, ExAC 0.002%). This variant has been reported in in an individual affected with ovarian cancer (PMID: 22725699). RT-PCR analysis of mRNA isolated from patient blood cells showed that this variant leads to skipping of exon 7 (PMID: 22725699). In summary, this variant has been reported in both the population and in an affected individual, and it is likely to cause a splicing defect. However, without additional functional and/or genetic data, this variant has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV000571578 SCV000663788 likely pathogenic Hereditary cancer-predisposing syndrome 2018-05-30 criteria provided, single submitter clinical testing Functionally-validated splicing mutation;Other strong data supporting pathogenic classification;Rarity in general population databases (dbsnp, esp, 1000 genomes)
Color RCV000571578 SCV000686408 uncertain significance Hereditary cancer-predisposing syndrome 2019-02-21 criteria provided, single submitter clinical testing

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