Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000144070 | SCV003255770 | uncertain significance | not provided | 2022-08-16 | 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 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: 156013). This missense change has been observed in individual(s) with Charcot-Marie-Tooth disease (PMID: 25025039). This variant is present in population databases (rs587777712, gnomAD 0.005%). This sequence change replaces arginine, which is basic and polar, with threonine, which is neutral and polar, at codon 338 of the ARHGEF10 protein (p.Arg338Thr). |
Revvity Omics, |
RCV003137643 | SCV003826894 | uncertain significance | Autosomal dominant slowed nerve conduction velocity | 2019-10-11 | criteria provided, single submitter | clinical testing | |
Dept. |
RCV000144884 | SCV000118595 | likely pathogenic | Charcot-Marie-Tooth disease | 2013-11-01 | no assertion criteria provided | research | |
OMIM | RCV000144070 | SCV000189142 | uncertain significance | not provided | 2016-08-12 | no assertion criteria provided | literature only | |
Inherited Neuropathy Consortium Ii, |
RCV003137643 | SCV004011922 | uncertain significance | Autosomal dominant slowed nerve conduction velocity | 2016-01-06 | no assertion criteria provided | literature only |