Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000007771 | SCV000942442 | pathogenic | Charcot-Marie-Tooth disease type 2B | 2019-12-27 | criteria provided, single submitter | clinical testing | This sequence change replaces valine with methionine at codon 162 of the RAB7A protein (p.Val162Met). The valine residue is highly conserved and there is a small physicochemical difference between valine and methionine. This variant is not present in population databases (ExAC no frequency). This variant has been observed to segregate with Charcot-Marie-Tooth disease in several families (PMID: 12545426, 27462242, 22971099). ClinVar contains an entry for this variant (Variation ID: 7346). Experimental studies have shown that this missense change alters protein function (PMID: 23188822, 21151572, 18272684, 26791407). For these reasons, this variant has been classified as Pathogenic. |
OMIM | RCV000007771 | SCV000027972 | pathogenic | Charcot-Marie-Tooth disease type 2B | 2003-03-01 | no assertion criteria provided | literature only | |
Uni |
RCV000059224 | SCV000090753 | not provided | not provided | no assertion provided | not provided | ||
Inherited Neuropathy Consortium | RCV000789554 | SCV000928910 | uncertain significance | Charcot-Marie-Tooth disease | no assertion criteria provided | literature only |