ClinVar Miner

Submissions for variant NM_021629.4(GNB4):c.908A>C (p.Asp303Ala)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000697091 SCV000825682 uncertain significance Charcot-Marie-Tooth disease, dominant intermediate F 2018-03-14 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with alanine at codon 303 of the GNB4 protein (p.Asp303Ala). The aspartic acid residue is weakly conserved and there is a moderate physicochemical difference between aspartic acid and alanine. This variant is present in population databases (rs751851667, ExAC 0.002%). This variant has not been reported in the literature in individuals with GNB4-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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.

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