ClinVar Miner

Submissions for variant NM_007272.3(CTRC):c.453G>T (p.Lys151Asn)

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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 RCV003171240 SCV003859629 uncertain significance Hereditary pancreatitis 2022-12-01 criteria provided, single submitter clinical testing The p.K151N variant (also known as c.453G>T), located in coding exon 5 of the CTRC gene, results from a G to T substitution at nucleotide position 453. The lysine at codon 151 is replaced by asparagine, an amino acid with similar properties. This alteration was identified in an individual diagnosed with pancreatitis (Rosendahl J et al. Gut, 2013 Apr;62:582-92). This amino acid position is poorly conserved in available vertebrate species. 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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