Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV003301386 | SCV003996321 | uncertain significance | Hereditary pancreatitis | 2023-03-30 | criteria provided, single submitter | clinical testing | The p.T368I variant (also known as c.1103C>T), located in coding exon 10 of the CPA1 gene, results from a C to T substitution at nucleotide position 1103. The threonine at codon 368 is replaced by isoleucine, 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. |