ClinVar Miner

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

gnomAD frequency: 0.00001  dbSNP: rs1410643364
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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 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. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in GNB4 cause disease. This variant has been observed in an individual affected with sensory and/or motor neuropathy (Invitae). This variant is not present in population databases (ExAC no frequency). 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.

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