ClinVar Miner

Submissions for variant NM_004371.4(COPA):c.863G>A (p.Arg288His)

gnomAD frequency: 0.00001  dbSNP: rs781647709
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000702689 SCV000831552 uncertain significance Autoimmune interstitial lung disease-arthritis syndrome 2022-07-19 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 COPA protein function. ClinVar contains an entry for this variant (Variation ID: 579409). This variant has not been reported in the literature in individuals affected with COPA-related conditions. This variant is present in population databases (rs781647709, gnomAD 0.01%). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 288 of the COPA protein (p.Arg288His).

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