Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Athena Diagnostics Inc | RCV000711650 | SCV000842037 | uncertain significance | not provided | 2018-06-07 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV001042734 | SCV001206435 | uncertain significance | Charcot-Marie-Tooth disease type 4 | 2019-12-01 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine with arginine at codon 469 of the FIG4 protein (p.Gly469Arg). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is present in population databases (rs201742496, ExAC 0.005%). This variant has been observed in the heterozygous state in individuals affected with Charcot-Marie-Tooth disease (PMID: 21705420). ClinVar contains an entry for this variant (Variation ID: 585869). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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. |