Submissions for variant NM_021629.4(GNB4):c.158G>A (p.Gly53Asp) (rs387907340)

Minimum review status:		Collection method:
Minimum conflict level:
		ClinVar version:

Total submissions: 2

Download table as spreadsheet

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000034850	SCV001237157	likely pathogenic	Charcot-Marie-Tooth disease, dominant intermediate F	2019-11-20	criteria provided, single submitter	clinical testing	This sequence change replaces glycine with aspartic acid at codon 53 of the GNB4 protein (p.Gly53Asp). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and aspartic acid. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with Charcot-Marie-Tooth disease (PMID: 23434117). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 41940). 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	RCV000034850	SCV000058420	pathogenic	Charcot-Marie-Tooth disease, dominant intermediate F	2013-03-07	no assertion criteria provided	literature only

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.