ClinVar Miner

Submissions for variant NM_004371.4(COPA):c.2476+9C>T

dbSNP: rs758402711
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV002210916 SCV002496075 uncertain significance Autoimmune interstitial lung disease-arthritis syndrome 2022-02-01 criteria provided, single submitter clinical testing COPA NM_004371.3 intron 23 c.2476+9C>T: This variant has not been reported in the literature and is not present in large control databases. Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. This variant is an intronic variant with no predicted change in the amino acid sequence but may have an unknown effect on splicing. Splice prediction tools do not suggest that this variant may affect splicing. However, further studies are needed to understand its impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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