ClinVar Miner

Submissions for variant NM_007272.3(CTRC):c.498C>A (p.Asn166Lys)

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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 RCV004517344 SCV005025658 uncertain significance Hereditary pancreatitis 2023-10-20 criteria provided, single submitter clinical testing The p.N166K variant (also known as c.498C>A), located in coding exon 6 of the CTRC gene, results from a C to A substitution at nucleotide position 498. The asparagine at codon 166 is replaced by lysine, 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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