ClinVar Miner

Submissions for variant NM_021629.4(GNB4):c.640C>T (p.Arg214Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001039770 SCV001203316 uncertain significance Charcot-Marie-Tooth disease, dominant intermediate F 2020-08-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg214*) in the GNB4 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs748747265, ExAC 0.006%). This variant has not been reported in the literature in individuals with GNB4-related conditions. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in GNB4 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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