ClinVar Miner

Submissions for variant NM_002878.4(RAD51D):c.273del (p.Lys91fs)

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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 RCV002439223 SCV002749394 pathogenic Hereditary cancer-predisposing syndrome 2022-04-19 criteria provided, single submitter clinical testing The c.273delA pathogenic mutation, located in coding exon 4 of the RAD51D gene, results from a deletion of one nucleotide at nucleotide position 273, causing a translational frameshift with a predicted alternate stop codon (p.K91Nfs*12). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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 RCV003102161 SCV003235683 pathogenic Breast-ovarian cancer, familial, susceptibility to, 4 2023-07-10 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 1795413). This variant has not been reported in the literature in individuals affected with RAD51D-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Lys91Asnfs*12) 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).
Myriad Genetics, Inc. RCV003102161 SCV004930721 pathogenic Breast-ovarian cancer, familial, susceptibility to, 4 2024-01-04 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

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