ClinVar Miner

Submissions for variant NM_001369268.1(ACAN):c.836G>A (p.Arg279Gln)

gnomAD frequency: 0.00026  dbSNP: rs184913582
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001962321 SCV002133756 uncertain significance not provided 2024-12-26 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 279 of the ACAN protein (p.Arg279Gln). This variant is present in population databases (rs184913582, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with ACAN-related conditions. ClinVar contains an entry for this variant (Variation ID: 1367485). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt ACAN protein function with a negative predictive value of 80%. 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.
Fulgent Genetics, Fulgent Genetics RCV002490034 SCV002804080 uncertain significance Spondyloepiphyseal dysplasia, Kimberley type; Spondyloepimetaphyseal dysplasia, aggrecan type; Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans 2021-12-28 criteria provided, single submitter clinical testing
Center for Computational Biology & Bioinformatics, University of California, San Diego RCV004571455 SCV005050023 uncertain significance Meniere disease 2024-06-03 no assertion criteria provided research

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