ClinVar Miner

Submissions for variant NM_021629.4(GNB4):c.265A>G (p.Lys89Glu) (rs387907341)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000034851 SCV001396099 likely pathogenic Charcot-Marie-Tooth disease, dominant intermediate F 2019-04-22 criteria provided, single submitter clinical testing This sequence change replaces lysine with glutamic acid at codon 89 of the GNB4 protein (p.Lys89Glu). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and glutamic acid. This variant is not present in population databases (ExAC no frequency). This variant has been observed to be de novo in an individual affected with Charcot-Marie-Tooth disease (PMID: 23434117). ClinVar contains an entry for this variant (Variation ID: 41941). This variant has been reported to affect GNB4 protein function (PMID: 23434117). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
OMIM RCV000034851 SCV000058421 pathogenic Charcot-Marie-Tooth disease, dominant intermediate F 2013-03-07 no assertion criteria provided literature only

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