ClinVar Miner

Submissions for variant NM_001868.4(CPA1):c.834G>T (p.Lys278Asn)

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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 RCV002434711 SCV002680580 uncertain significance Hereditary pancreatitis 2021-09-20 criteria provided, single submitter clinical testing The p.K278N variant (also known as c.834G>T), located in coding exon 8 of the CPA1 gene, results from a G to T substitution at nucleotide position 834. The lysine at codon 278 is replaced by asparagine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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