ClinVar Miner

Submissions for variant NM_024334.3(TMEM43):c.447dup (p.Glu150Ter) (rs1423539317)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000997998 SCV001153803 uncertain significance not provided 2018-08-01 criteria provided, single submitter clinical testing
Color RCV001185518 SCV001351754 uncertain significance Cardiomyopathy 2019-05-01 criteria provided, single submitter clinical testing
Invitae RCV001203047 SCV001374193 uncertain significance Arrhythmogenic right ventricular cardiomyopathy, type 5 2019-06-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu150*) in the TMEM43 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with TMEM43-related conditions. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in TMEM43 cause disease. 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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