ClinVar Miner

Submissions for variant NM_007272.3(CTRC):c.431A>G (p.Glu144Gly)

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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 RCV004822702 SCV005568183 uncertain significance Hereditary pancreatitis 2024-09-05 criteria provided, single submitter clinical testing The p.E144G variant (also known as c.431A>G), located in coding exon 5 of the CTRC gene, results from an A to G substitution at nucleotide position 431. The glutamic acid at codon 144 is replaced by glycine, 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. Based on the available evidence, the clinical significance of this variant remains unclear.

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