ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.791G>T (p.Gly264Val) (rs1283065191)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000573436 SCV000664922 uncertain significance Hereditary cancer-predisposing syndrome 2018-10-11 criteria provided, single submitter clinical testing Insufficient evidence
Invitae RCV000648255 SCV000770069 uncertain significance Fanconi anemia, complementation group O 2018-04-04 criteria provided, single submitter clinical testing This sequence change replaces glycine with valine at codon 264 of the RAD51C protein (p.Gly264Val). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and valine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual affected with breast cancer (PMID: 20400964). ClinVar contains an entry for this variant (Variation ID: 480946) An experimental study using RAD51C-deficient cell lines showed that RAD51C protein containing this missense change rescued mitomicyin C hypersensitivity and normal RAD51 foci formation after DNA damage to levels comparable to those of the wild-type protein (PMID: 20400964). 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.
Leiden Open Variation Database RCV001195026 SCV001365278 likely benign not specified 2014-11-02 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Johan den Dunnen.

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