ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.519dup (p.Thr174fs)

dbSNP: rs1598460710
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001023701 SCV001185616 pathogenic Hereditary cancer-predisposing syndrome 2019-06-14 criteria provided, single submitter clinical testing The c.519dupT pathogenic mutation, located in coding exon 3 of the RAD51C gene, results from a duplication of T at nucleotide position 519, causing a translational frameshift with a predicted alternate stop codon (p.T174Yfs*29). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Labcorp Genetics (formerly Invitae), Labcorp RCV001227076 SCV001399415 pathogenic Fanconi anemia complementation group O 2024-02-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr174Tyrfs*29) in the RAD51C gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RAD51C are known to be pathogenic (PMID: 20400964, 21990120, 24800917, 29278735). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with RAD51C-related conditions. ClinVar contains an entry for this variant (Variation ID: 825532). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Myriad Genetics, Inc. RCV004030841 SCV004931310 pathogenic Breast-ovarian cancer, familial, susceptibility to, 3 2024-01-02 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.
Baylor Genetics RCV004030841 SCV005052694 likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 3 2024-02-29 criteria provided, single submitter clinical testing

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