ClinVar Miner

Submissions for variant NM_001005361.3(DNM2):c.2377del (p.Pro792_Leu793insTer)

dbSNP: rs764391392
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001366225 SCV001562521 uncertain significance Charcot-Marie-Tooth disease dominant intermediate B 2020-09-03 criteria provided, single submitter clinical testing The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in DNM2 cause disease. This variant has not been reported in the literature in individuals with DNM2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Leu793*) in the DNM2 gene. It is expected to result in an absent or disrupted protein product. 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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