ClinVar Miner

Submissions for variant NM_004766.3(COPB2):c.2543C>T (p.Thr848Ile)

gnomAD frequency: 0.00026  dbSNP: rs138135248
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001991825 SCV002281727 benign not provided 2023-12-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002642009 SCV003618047 uncertain significance Inborn genetic diseases 2021-12-13 criteria provided, single submitter clinical testing The c.2543C>T (p.T848I) alteration is located in exon 20 (coding exon 20) of the COPB2 gene. This alteration results from a C to T substitution at nucleotide position 2543, causing the threonine (T) at amino acid position 848 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV001991825 SCV005189809 uncertain significance not provided criteria provided, single submitter not provided

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