ClinVar Miner

Submissions for variant NM_000095.3(COMP):c.1501G>A (p.Gly501Ser)

dbSNP: rs2145900523
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics RCV002236174 SCV002512069 likely pathogenic Multiple epiphyseal dysplasia type 1 2022-04-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003546716 SCV004263309 likely pathogenic not provided 2023-06-10 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 501 of the COMP protein (p.Gly501Ser). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This variant disrupts the p.Gly501 amino acid residue in COMP. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 21922596; Invitae). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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: 1327423). This missense change has been observed in individual(s) with clinical features of multiple epiphyseal dysplasia (Invitae). This variant is not present in population databases (gnomAD no frequency).
Institute of Human Genetics, University of Wuerzburg RCV001787703 SCV002031296 likely pathogenic Multiple epiphyseal dysplasia no assertion criteria provided clinical testing

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