ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.414G>C (p.Leu138Phe) (rs267606999)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000129800 SCV000184611 likely pathogenic Hereditary cancer-predisposing syndrome 2019-11-07 criteria provided, single submitter clinical testing Deficient protein function in appropriate functional assay(s);Other data supporting pathogenic classification;Rarity in general population databases (dbsnp, esp, 1000 genomes)
Invitae RCV000648269 SCV000770083 likely pathogenic Fanconi anemia, complementation group O 2019-12-18 criteria provided, single submitter clinical testing This sequence change replaces leucine with phenylalanine at codon 138 of the RAD51C protein (p.Leu138Phe). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and phenylalanine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals and families with breast cancer and/or ovarian cancer and has been reported to segregate with disease in two of these families (PMID: 20400964, 22451500, 27328445). ClinVar contains an entry for this variant (Variation ID: 6825). Experimental studies have shown that this missense change disrupts protein function, resulting in a defective DNA damage response (PMID: 20400964, 22167183, 24141787, 25292178, 26354865). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Counsyl RCV000662981 SCV000785964 likely pathogenic Breast-ovarian cancer, familial 3; Fanconi anemia, complementation group O 2018-01-23 criteria provided, single submitter clinical testing
Color RCV000129800 SCV000909442 likely pathogenic Hereditary cancer-predisposing syndrome 2019-03-29 criteria provided, single submitter clinical testing
OMIM RCV000007227 SCV000027423 risk factor Breast-ovarian cancer, familial 3 2010-05-01 no assertion criteria provided literature only
Leiden Open Variation Database RCV001195017 SCV001365257 pathogenic not provided 2014-11-02 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Johan den Dunnen.

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