Total submissions: 4
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, |
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 |