Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000530141 | SCV000644081 | pathogenic | Charcot-Marie-Tooth disease, type 4A | 2020-10-10 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine with arginine at codon 271 of the GDAP1 protein (p.Gly271Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is present in population databases (rs775622226, ExAC 0.02%). This variant has been observed in individual(s) with clinical features of autosomal recessive Charcot-Marie-Tooth disease (PMID: 14561495, Invitae). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 467773). Experimental studies have shown that this variant affects GDAP1 protein function (PMID: 23628762). For these reasons, this variant has been classified as Pathogenic. |
Molecular Genetics Laboratory, |
RCV000789643 | SCV001336402 | uncertain significance | Charcot-Marie-Tooth disease | criteria provided, single submitter | clinical testing | ||
Inherited Neuropathy Consortium | RCV000789643 | SCV000929015 | uncertain significance | Charcot-Marie-Tooth disease | no assertion criteria provided | literature only |