ClinVar Miner

Submissions for variant NM_002878.4(RAD51D):c.739-1G>C

dbSNP: rs1555567202
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001178012 SCV001342331 likely pathogenic Hereditary cancer-predisposing syndrome 2021-10-20 criteria provided, single submitter clinical testing This variant causes a G>C nucleotide substitution at the -1 position of intron 8 of the RAD51D gene. Splice site prediction tools suggest that this variant may have a significant impact on RNA splicing. Although this prediction has not been confirmed in published RNA studies, this variant is expected to delete part of the ATPase domain and result in disrupted 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. Based on available evidence, this variant is classified as Likely Pathogenic.

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