ClinVar Miner

Submissions for variant NM_004371.4(COPA):c.3425G>A (p.Arg1142Gln)

gnomAD frequency: 0.00002  dbSNP: rs768877876
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001050159 SCV001214255 uncertain significance Autoimmune interstitial lung disease-arthritis syndrome 2024-12-05 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 1142 of the COPA protein (p.Arg1142Gln). This variant is present in population databases (rs768877876, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with COPA-related conditions. ClinVar contains an entry for this variant (Variation ID: 846768). 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 COPA 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.
Ambry Genetics RCV004973298 SCV005562578 uncertain significance Inborn genetic diseases 2024-07-10 criteria provided, single submitter clinical testing The c.3452G>A (p.R1151Q) alteration is located in exon 32 (coding exon 32) of the COPA gene. This alteration results from a G to A substitution at nucleotide position 3452, causing the arginine (R) at amino acid position 1151 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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