ClinVar Miner

Submissions for variant NM_007272.3(CTRC):c.620G>A (p.Gly207Asp)

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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 RCV004615970 SCV005104662 uncertain significance Hereditary pancreatitis 2024-04-17 criteria provided, single submitter clinical testing The p.G207D variant (also known as c.620G>A), located in coding exon 6 of the CTRC gene, results from a G to A substitution at nucleotide position 620. The glycine at codon 207 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. Based on the available evidence, the clinical significance of this variant remains unclear.

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