ClinVar Miner

Submissions for variant NM_002878.4(RAD51D):c.351T>A (p.Cys117Ter)

dbSNP: rs1555568382
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000649704 SCV000771536 pathogenic Breast-ovarian cancer, familial, susceptibility to, 4 2021-01-26 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Cys117*) in the RAD51D gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RAD51D are known to be pathogenic (PMID: 21822267). This variant has not been reported in the literature in individuals with RAD51D-related conditions. ClinVar contains an entry for this variant (Variation ID: 539859). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV001020511 SCV001182000 pathogenic Hereditary cancer-predisposing syndrome 2023-12-04 criteria provided, single submitter clinical testing The p.C117* pathogenic mutation (also known as c.351T>A), located in coding exon 5 of the RAD51D gene, results from a T to A substitution at nucleotide position 351. This changes the amino acid from a cysteine to a stop codon within coding exon 5. 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.
Color Diagnostics, LLC DBA Color Health RCV001020511 SCV004357169 pathogenic Hereditary cancer-predisposing syndrome 2021-10-25 criteria provided, single submitter clinical testing This variant changes 1 nucleotide in exon 5 of the RAD51D gene, creating a premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. To our knowledge, this variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of RAD51D function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.

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