ClinVar Miner

Submissions for variant NM_007272.3(CTRC):c.550G>C (p.Ala184Pro)

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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 RCV004822698 SCV005568179 uncertain significance Hereditary pancreatitis 2024-08-14 criteria provided, single submitter clinical testing The p.A184P variant (also known as c.550G>C), located in coding exon 6 of the CTRC gene, results from a G to C substitution at nucleotide position 550. The alanine at codon 184 is replaced by proline, 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 variant remains unclear.

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