Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001039170 | SCV001202684 | uncertain significance | Distal spinal muscular atrophy, autosomal recessive 4; Charcot-Marie-Tooth disease, recessive intermediate c | 2019-12-19 | criteria provided, single submitter | clinical testing | This sequence change replaces threonine with methionine at codon 663 of the PLEKHG5 protein (p.Thr663Met). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and methionine. This variant is present in population databases (rs397515456, ExAC 0.03%). This variant has been observed in combination with another PLEKHG5 variant in an individual affected with Charcot-Marie-Tooth disease (PMID: 23844677). ClinVar contains an entry for this variant (Variation ID: 60780). This variant has been reported to affect PLEKHG5 protein function (PMID: 23844677). 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. |
OMIM | RCV000054547 | SCV000083025 | pathogenic | Charcot-Marie-Tooth disease, recessive intermediate c | 2013-07-12 | no assertion criteria provided | literature only |