ClinVar Miner

Submissions for variant NM_002878.4(RAD51D):c.463C>T (p.Gln155Ter)

dbSNP: rs1555568293
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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 RCV000570570 SCV000671946 pathogenic Hereditary cancer-predisposing syndrome 2023-03-06 criteria provided, single submitter clinical testing The p.Q155* pathogenic mutation (also known as c.463C>T), located in coding exon 5 of the RAD51D gene, results from a C to T substitution at nucleotide position 463. This changes the amino acid from a glutamine to a stop codon within coding exon 5. 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 RCV000685734 SCV000813228 pathogenic Breast-ovarian cancer, familial, susceptibility to, 4 2025-01-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln155*) 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 is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with RAD51D-related conditions. ClinVar contains an entry for this variant (Variation ID: 484775). 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.
Baylor Genetics RCV000685734 SCV004200444 likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 4 2022-01-05 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV000685734 SCV004932368 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 termination codon and is predicted to result in premature protein truncation.

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