ClinVar Miner

Submissions for variant NM_007272.3(CTRC):c.396G>T (p.Glu132Asp)

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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 RCV004615968 SCV005104660 uncertain significance Hereditary pancreatitis 2024-04-11 criteria provided, single submitter clinical testing The p.E132D variant (also known as c.396G>T), located in coding exon 5 of the CTRC gene, results from a G to T substitution at nucleotide position 396. The glutamic acid at codon 132 is replaced by aspartic acid, an amino acid with highly 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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