ClinVar Miner

Submissions for variant NM_000244.3(MEN1):c.119_124del (p.Val40_Leu41del) (rs386134248)

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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 RCV000722115 SCV000052861 uncertain significance not specified 2018-06-08 criteria provided, single submitter clinical testing Variant summary: MEN1 c.119_124delTGCTGG (p.Val40_Leu41del) results in an in-frame deletion that is predicted to remove two amino acids (Val, Leu) from the encoded protein. The variant was absent in 217338 control chromosomes (in gnomAD). 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.119_124delTGCTGG 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 RCV000030195 SCV000817678 uncertain significance Multiple endocrine neoplasia, type 1 2018-05-21 criteria provided, single submitter clinical testing This variant, c.119_124delTGCTGG, results in the deletion of 2 amino acid(s) of the MEN1 protein (p.Val40_Leu41del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with multiple endocrine neoplasia type 1 (PMID: 26767918). ClinVar contains an entry for this variant (Variation ID: 36522). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acids 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.

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