ClinVar Miner

Submissions for variant NM_001868.4(CPA1):c.787+2T>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002412283 SCV002680852 uncertain significance Hereditary pancreatitis 2021-03-22 criteria provided, single submitter clinical testing The c.787+2T>A intronic variant results from a T to A substitution two nucleotides after coding exon 7 in the CPA1 gene. This nucleotide position is highly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration may weaken the native splice donor site. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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