ClinVar Miner

Submissions for variant NM_007272.3(CTRC):c.549C>A (p.His183Gln)

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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 RCV004517350 SCV005025626 uncertain significance Hereditary pancreatitis 2024-02-16 criteria provided, single submitter clinical testing The p.H183Q variant (also known as c.549C>A), located in coding exon 6 of the CTRC gene, results from a C to A substitution at nucleotide position 549. The histidine at codon 183 is replaced by glutamine, 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 alteration remains unclear.

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