Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001388112 | SCV001588972 | pathogenic | not provided | 2022-02-06 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Experimental studies are conflicting or provide insufficient evidence to determine the effect of this variant on COMP function (PMID: 17570134, 23956175). 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. ClinVar contains an entry for this variant (Variation ID: 40995). This missense change has been observed in individuals with COMP-related skeletal dysplasia (PMID: 9463320, 11565064). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 585 of the COMP protein (p.Thr585Met). |
Blueprint Genetics | RCV001388112 | SCV001832239 | pathogenic | not provided | 2018-01-08 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000033887 | SCV000057795 | not provided | Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome | no assertion provided | literature only | ||
Gene |
RCV002054553 | SCV000086690 | not provided | Multiple epiphyseal dysplasia | no assertion provided | literature only |