Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001049977 | SCV001214061 | pathogenic | Charcot-Marie-Tooth disease type 2B | 2019-01-20 | criteria provided, single submitter | clinical testing | This missense change has been reported to affect RAB7A protein function (PMID: 18501189, 21151572, 23179371, 23188822, 23458836, 24344282). For these reasons, this variant has been classified as Pathogenic. A different variant (c.471G>C) giving rise to the same protein effect observed here (p.Lys157Asn) has been determined to be pathogenic (PMID: 17060578). This suggests that this variant is also likely to be causative of disease. This variant has not been reported in the literature in individuals with RAB7A-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces lysine with asparagine at codon 157 of the RAB7A protein (p.Lys157Asn). The lysine residue is highly conserved and there is a moderate physicochemical difference between lysine and asparagine. |