Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000558860 | SCV000635087 | uncertain significance | Costello syndrome | 2018-12-13 | criteria provided, single submitter | clinical testing | 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. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C65"). This variant has not been reported in the literature in individuals with HRAS-related disease. ClinVar contains an entry for this variant (Variation ID: 462151). This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with aspartic acid at codon 138 of the HRAS protein (p.Gly138Asp). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and aspartic acid. |