ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.917del (p.Gly306fs)

dbSNP: rs2143961536
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001524242 SCV001734034 pathogenic Hereditary cancer-predisposing syndrome 2021-01-11 criteria provided, single submitter clinical testing This variant deletes 1 nucleotide in exon 7 of the RAD51C gene, creating a frameshift and 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 RAD51C function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV001872025 SCV002141290 pathogenic Fanconi anemia complementation group O 2022-06-08 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1171281). This variant has not been reported in the literature in individuals affected with RAD51C-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gly306Aspfs*8) 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).
Ambry Genetics RCV001524242 SCV002687034 pathogenic Hereditary cancer-predisposing syndrome 2022-03-30 criteria provided, single submitter clinical testing The c.917delG pathogenic mutation, located in coding exon 7 of the RAD51C gene, results from a deletion of one nucleotide at nucleotide position 917, causing a translational frameshift with a predicted alternate stop codon (p.G306Dfs*8). 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.

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