ClinVar Miner

Submissions for variant NM_004371.4(COPA):c.2519T>C (p.Val840Ala)

gnomAD frequency: 0.00002  dbSNP: rs778952692
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000653102 SCV000774977 likely benign Autoimmune interstitial lung disease-arthritis syndrome 2024-01-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002534193 SCV003654781 uncertain significance Inborn genetic diseases 2022-10-04 criteria provided, single submitter clinical testing The c.2546T>C (p.V849A) alteration is located in exon 24 (coding exon 24) of the COPA gene. This alteration results from a T to C substitution at nucleotide position 2546, causing the valine (V) at amino acid position 849 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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