ClinVar Miner

Submissions for variant NM_007272.3(CTRC):c.653G>A (p.Gly218Asp)

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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 RCV002364318 SCV002658970 uncertain significance Hereditary pancreatitis 2022-10-08 criteria provided, single submitter clinical testing The p.G218D variant (also known as c.653G>A), located in coding exon 7 of the CTRC gene, results from a G to A substitution at nucleotide position 653. The glycine at codon 218 is replaced by aspartic acid, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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