ClinVar Miner

Submissions for variant NM_002878.3(RAD51D):c.263+20G>T (rs763380219)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000479315 SCV000569280 uncertain significance not provided 2016-04-11 criteria provided, single submitter clinical testing This variant is denoted RAD51D c.263+20G>T or IVS3+20G>T and consists of a G>T nucleotide substitution at the +20 position of intron 3 of the RAD51D gene. Multiple in silico models predict this variant to create a new cryptic splice donor site and to possibly cause abnormal gene splicing; however, in the absence of RNA or functional studies, the actual effect of this variant is unknown. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. RAD51D c.263+20G>T was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, suggesting it is not a common benign variant in these populations. The guanine (G) nucleotide that is altered is not conserved across species. Based on currently available information, it is unclear whether RAD51D c.263+20G>T is pathogenic or benign. We consider it to be a variant of uncertain significance.

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