Submissions for variant NM_014629.4(ARHGEF10):c.401C>T (p.Ala134Val)

gnomAD frequency: 0.00082  dbSNP: rs151080025

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001000249	SCV001156809	uncertain significance	Autosomal dominant slowed nerve conduction velocity	2019-06-27	criteria provided, single submitter	clinical testing
Invitae	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.
CeGaT Center for Human Genetics Tuebingen	RCV001700964	SCV004159393	likely benign	not provided	2023-07-01	criteria provided, single submitter	clinical testing	ARHGEF10: BS2
Clinical Genetics, Academic Medical Center	RCV001700964	SCV001923048	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001700964	SCV001928697	likely benign	not provided		no assertion criteria provided	clinical testing