ClinVar Miner

Submissions for variant NM_021629.4(GNB4):c.204-2A>G

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001221757 SCV001393819 uncertain significance Charcot-Marie-Tooth disease, dominant intermediate F 2019-08-09 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 4 of the GNB4 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with sensory and/or motor neuropathy (Invitae). 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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