ClinVar Miner

Submissions for variant NM_007272.3(CTRC):c.371T>G (p.Leu124Arg)

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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 RCV002349087 SCV002623223 uncertain significance Hereditary pancreatitis 2019-01-05 criteria provided, single submitter clinical testing The p.L124R variant (also known as c.371T>G), located in coding exon 5 of the CTRC gene, results from a T to G substitution at nucleotide position 371. The leucine at codon 124 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is not well conserved in available vertebrate species. 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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