ClinVar Miner

Submissions for variant NM_007272.3(CTRC):c.584G>C (p.Arg195Thr)

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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 RCV003382232 SCV004097947 uncertain significance Hereditary pancreatitis 2023-07-05 criteria provided, single submitter clinical testing The p.R195T variant (also known as c.584G>C), located in coding exon 6 of the CTRC gene, results from a G to C substitution at nucleotide position 584. The arginine at codon 195 is replaced by threonine, 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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