Submissions for variant NM_000166.6(GJB1):c.637A>G (p.Ile213Val) (rs753503984)

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000622462	SCV000742508	uncertain significance	Inborn genetic diseases	2017-05-05	criteria provided, single submitter	clinical testing
Invitae	RCV000654834	SCV000776736	uncertain significance	Charcot-Marie-Tooth Neuropathy X	2017-08-09	criteria provided, single submitter	clinical testing	This sequence change replaces isoleucine with valine at codon 213 of the GJB1 protein (p.Ile213Val). The isoleucine residue is moderately conserved and there is a small physicochemical difference between isoleucine and valine. This variant is present in population databases (rs753503984, ExAC 0.002%). This variant has not been reported in the literature in individuals with GJB1-related disease. Experimental studies have shown that this missense change is expressed similar to the wild-type, with punctate cell surface immunostaining and numerous gap junction-like plaques (PMID: 12460545). 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.
Molecular Genetics Laboratory,London Health Sciences Centre	RCV000789057	SCV001336656	uncertain significance	Charcot-Marie-Tooth disease		criteria provided, single submitter	clinical testing
Inherited Neuropathy Consortium	RCV000789057	SCV000928406	uncertain significance	Charcot-Marie-Tooth disease		no assertion criteria provided	literature only
Clinical Genetics,Academic Medical Center	RCV001700255	SCV001921595	uncertain significance	not provided		no assertion criteria provided	clinical testing