ClinVar Miner

Submissions for variant NM_000244.3(MEN1):c.659_667delinsGCCCCT (p.Val220_Arg223delinsGlyProTrp) (rs386134257)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000722116 SCV000052873 uncertain significance not specified 2018-03-28 criteria provided, single submitter clinical testing Variant summary: MEN1 c.644_652delinsGCCCCT (p.Val215_Arg218delinsGlyProTrp) results in an in-frame deletion and insertion that is predicted to remove 4 and insert 3 amino acids into the encoded protein. One in-silico tool predicts a damaging effect of the variant on protein function. The variant was absent in 245616 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.644_652delinsGCCCCT in individuals affected with Multiple Endocrine Neoplasia Type 1 and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.
Invitae RCV000030206 SCV000830970 uncertain significance Multiple endocrine neoplasia, type 1 2018-03-22 criteria provided, single submitter clinical testing This variant, c.644_652delinsGCCCCT, is a complex sequence change that results in the replacement of 4 amino acids of the MEN1 protein (p.Val215_Arg218delinsGlyProTrp). This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with MEN1-related disease. ClinVar contains an entry for this variant (Variation ID: 36533). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. 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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