Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV001000249 | SCV001156809 | uncertain significance | Autosomal dominant slowed nerve conduction velocity | 2019-06-27 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001700964 | SCV002295641 | uncertain significance | not provided | 2023-11-27 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 134 of the ARHGEF10 protein (p.Ala134Val). This variant is present in population databases (rs151080025, gnomAD 0.1%), and has an allele count higher than expected for a pathogenic variant. This variant has not been reported in the literature in individuals affected with ARHGEF10-related conditions. ClinVar contains an entry for this variant (Variation ID: 810896). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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. |
Ce |
RCV001700964 | SCV004159393 | likely benign | not provided | 2023-07-01 | criteria provided, single submitter | clinical testing | ARHGEF10: BS2 |
Clinical Genetics, |
RCV001700964 | SCV001923048 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV001700964 | SCV001928697 | likely benign | not provided | no assertion criteria provided | clinical testing |