Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000034851 | SCV001396099 | pathogenic | Charcot-Marie-Tooth disease dominant intermediate F | 2022-10-18 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects GNB4 function (PMID: 23434117). 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: 41941). This missense change has been observed in individual(s) with Charcot-Marie-Tooth disease (PMID: 23434117, 31211173, 34071515). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 89 of the GNB4 protein (p.Lys89Glu). |
OMIM | RCV000034851 | SCV000058421 | pathogenic | Charcot-Marie-Tooth disease dominant intermediate F | 2013-03-07 | no assertion criteria provided | literature only |