ClinVar Miner

Submissions for variant NM_016156.6(MTMR2):c.1851_1852del (p.Glu617fs)

dbSNP: rs769866540
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001231912 SCV001404449 uncertain significance Charcot-Marie-Tooth disease type 4 2019-10-24 criteria provided, single submitter clinical testing 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. This variant has not been reported in the literature in individuals with MTMR2-related conditions. This variant is present in population databases (rs769866540, ExAC 0.006%). This sequence change results in a premature translational stop signal in the MTMR2 gene (p.Glu617Aspfs*3). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 27 amino acids of the MTMR2 protein.

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