ClinVar Miner

Submissions for variant NM_002878.4(RAD51D):c.51_52delinsG (p.Ile17fs)

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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 RCV002335995 SCV002644624 pathogenic Hereditary cancer-predisposing syndrome 2022-07-06 criteria provided, single submitter clinical testing The c.51_52delCCinsG pathogenic mutation, located in coding exon 1 of the RAD51D gene, results from the deletion of two nucleotides and insertion of one nucleotide causing a translational frameshift with a predicted alternate stop codon (p.I17Mfs*23). 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.
Myriad Genetics, Inc. RCV004051016 SCV004931684 pathogenic Breast-ovarian cancer, familial, susceptibility to, 4 2024-01-03 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 RCV004051016 SCV005054018 likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 4 2024-01-26 criteria provided, single submitter clinical testing

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