ClinVar Miner

Submissions for variant NM_007272.3(CTRC):c.289G>A (p.Glu97Lys)

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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 RCV004517332 SCV005025657 uncertain significance Hereditary pancreatitis 2023-09-21 criteria provided, single submitter clinical testing The p.E97K variant (also known as c.289G>A), located in coding exon 4 of the CTRC gene, results from a G to A substitution at nucleotide position 289. The glutamic acid at codon 97 is replaced by lysine, 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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