ClinVar Miner

Submissions for variant NM_021629.4(GNB4):c.7G>A (p.Glu3Lys)

gnomAD frequency: 0.00001  dbSNP: rs955229785
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001059168 SCV001223780 uncertain significance Charcot-Marie-Tooth disease dominant intermediate F 2022-10-29 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 854180). This variant has not been reported in the literature in individuals affected with GNB4-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.006%). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 3 of the GNB4 protein (p.Glu3Lys).

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