ClinVar Miner

Submissions for variant NM_007272.3(CTRC):c.260G>A (p.Gly87Glu)

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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 RCV003171709 SCV003859631 uncertain significance Hereditary pancreatitis 2022-12-01 criteria provided, single submitter clinical testing The p.G87E variant (also known as c.260G>A), located in coding exon 4 of the CTRC gene, results from a G to A substitution at nucleotide position 260. The glycine at codon 87 is replaced by glutamic acid, 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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