ClinVar Miner

Submissions for variant NM_000095.3(COMP):c.1665C>G (p.Asn555Lys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MGZ Medical Genetics Center RCV002288301 SCV002579764 likely pathogenic Multiple epiphyseal dysplasia type 1 2022-02-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003097765 SCV003443896 pathogenic not provided 2022-03-01 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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 sequence change replaces asparagine, which is neutral and polar, with lysine, which is basic and polar, at codon 555 of the COMP protein (p.Asn555Lys). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with multiple epiphyseal dysplasia (PMID: 15756302; Invitae).

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