Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Kasturba Medical College, |
RCV003480544 | SCV004217838 | likely pathogenic | Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome | criteria provided, single submitter | clinical testing | ||
Invitae | RCV003553996 | SCV004297281 | uncertain significance | not provided | 2023-06-09 | 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt COMP protein function. This missense change has been observed in individuals with COMP-related conditions (PMID: 21922596; Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 317 of the COMP protein (p.Asp317Gly). |