ClinVar Miner

Submissions for variant NM_002878.3(RAD51D):c.2T>C (p.Met1Thr) (rs1064794619)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521853 SCV000619303 likely pathogenic not provided 2017-07-17 criteria provided, single submitter clinical testing This variant alters the initiator Methionine codon, and the resultant protein would be described as“p.Met1?” to signify that it is not known if the loss of Met1 prevents all protein translation or if an abnormal protein isproduced using an alternate Methionine codon. RAD51D c.2T>C has not been previously published as a pathogenicvariant, nor has it been reported as a benign polymorphism to our knowledge. However, the adjacent variants RAD51Dc.1A>T and c.1A>G, which also result in p.Met1?, have been reported in individuals with personal history of ovariancancer, one of which also had breast cancer (Gutiérrez-Enriquez 2014, Susswein 2016). As RAD51D c.2T>C ispredicted to alter normal protein production, it is considered a likely pathogenic variant
Invitae RCV000809878 SCV000950059 uncertain significance Breast-ovarian cancer, familial 4 2018-08-01 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the RAD51D mRNA. The next in-frame methionine is located at codon 16. 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 disease. ClinVar contains an entry for this variant (Variation ID: 450694). Experimental studies have not been reported for this initiation codon variant and it is currently unknown if translation is rescued by a downstream methionine. 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.

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