ClinVar Miner

Submissions for variant NM_002878.3(RAD51D):c.955C>T (p.Gln319Ter) (rs794726988)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724431 SCV000224913 uncertain significance not provided 2018-06-19 criteria provided, single submitter clinical testing
Invitae RCV000173764 SCV000287735 uncertain significance Breast-ovarian cancer, familial 4 2019-11-06 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the RAD51D gene (p.Gln319*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 10 amino acids of the RAD51D protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with RAD51D-related conditions. ClinVar contains an entry for this variant (Variation ID: 193645). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
GeneDx RCV000724431 SCV000566849 uncertain significance not provided 2017-04-12 criteria provided, single submitter clinical testing This variant is denoted RAD51D c.955C>T at the cDNA level and p.Gln319Ter (Q319X) at the protein level. The substitution creates a nonsense variant, which changes a Glutamine to a premature stop codon (CAG>TAG). This variant has not, to our knowledge, been reported in the literature as pathogenic or benign. RAD51D Gln319Ter results in the loss of 10 amino acids at the end of the protein. However, due to the location of the created nonsense codon in the last exon, the transcript is not expected to undergo nonsense-mediated decay and could encode a truncated protein that may retain some normal function. The deleted residues are not conserved and include a portion of the RAD51C binding domain (Miller 2004). RAD51D Gln319Ter was not observed in large population cohorts (NHLBI Exome Sequencing Project, The 1000 Genomes Consortium 2015, Lek 2016). Based on currently available information, we consider RAD51D Gln319Ter to be a variant of uncertain significance.
Ambry Genetics RCV000566389 SCV000671928 uncertain significance Hereditary cancer-predisposing syndrome 2019-05-03 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
Color RCV000566389 SCV001357250 uncertain significance Hereditary cancer-predisposing syndrome 2020-05-11 criteria provided, single submitter clinical testing

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