ClinVar Miner

Submissions for variant NM_004371.4(COPA):c.2725C>T (p.Pro909Ser) (rs764620128)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000653100 SCV000774974 uncertain significance Autoimmune interstitial lung, joint, and kidney disease 2017-12-21 criteria provided, single submitter clinical testing This sequence change replaces proline with serine at codon 909 of the COPA protein (p.Pro909Ser). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and serine. This variant is present in population databases (rs764620128, ExAC 0.02%), and has an allele count higher than expected for a pathogenic variant (PMID: 28166811). This variant has not been reported in the literature in individuals with COPA-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.

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