ClinVar Miner

Submissions for variant NM_004371.4(COPA):c.715G>C (p.Ala239Pro) (rs1557868211)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000700608 SCV000829368 likely pathogenic Autoimmune interstitial lung, joint, and kidney disease 2018-05-10 criteria provided, single submitter clinical testing This sequence change replaces alanine with proline at codon 239 of the COPA protein (p.Ala239Pro). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and proline. This variant is not present in population databases (ExAC no frequency). This variant has been observed to occur de novo in an individual with clinical features of autosomal dominant autoimmune interstitial lung, joint, and kidney disease (Invitae). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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