ClinVar Miner

Submissions for variant NM_004371.4(COPA):c.3147+4G>A

dbSNP: rs1571147652
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000818795 SCV000959427 uncertain significance Autoimmune interstitial lung disease-arthritis syndrome 2022-02-24 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with COPA-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 29 of the COPA gene. It does not directly change the encoded amino acid sequence of the COPA protein. It affects a nucleotide within the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 661387). 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. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing.

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