ClinVar Miner

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

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Total submissions: 2
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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

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