Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001325956 | SCV001516968 | uncertain significance | Charcot-Marie-Tooth disease dominant intermediate F | 2022-07-06 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 42 of the GNB4 protein (p.Arg42Gln). 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 1025619). This missense change has been observed in individual(s) with Charcot-Marie-Tooth disease (PMID: 27549087). This variant is present in population databases (rs749082388, gnomAD 0.009%). |