ClinVar Miner

Submissions for variant NM_004371.4(COPA):c.2822G>A (p.Arg941Gln)

gnomAD frequency: 0.00023  dbSNP: rs368690601
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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 RCV001319851 SCV001510613 uncertain significance Autoimmune interstitial lung disease-arthritis syndrome 2024-10-15 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 941 of the COPA protein (p.Arg941Gln). This variant is present in population databases (rs368690601, gnomAD 0.03%). This missense change has been observed in individual(s) with clinical features of autoimmune interstitial lung (PMID: 35753512). ClinVar contains an entry for this variant (Variation ID: 1020294). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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 RCV001319851 SCV002815491 uncertain significance Autoimmune interstitial lung disease-arthritis syndrome 2021-12-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004691413 SCV005187006 uncertain significance not provided criteria provided, single submitter not provided

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