Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV001028041 | SCV001521583 | uncertain significance | Grebe syndrome | 2020-05-05 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Invitae | RCV002552015 | SCV003319488 | uncertain significance | not provided | 2022-12-22 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 361 of the GDF5 protein (p.Arg361Cys). This variant has not been reported in the literature in individuals affected with GDF5-related conditions. 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 828159). |
Biochemical Molecular Genetic Laboratory, |
RCV001028041 | SCV001190808 | uncertain significance | Grebe syndrome | 2020-02-05 | no assertion criteria provided | clinical testing |