ClinVar Miner

Submissions for variant NM_007272.3(CTRC):c.550G>A (p.Ala184Thr)

gnomAD frequency: 0.00009  dbSNP: rs761546594
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001217811 SCV000883697 uncertain significance Hereditary pancreatitis 2024-07-25 criteria provided, single submitter clinical testing The CTRC c.550G>A; p.Ala184Thr variant (rs761546594, ClinVar Variation ID: 618054), is reported in the literature in an individual affected with chronic pancreatitis (Stefanovics 2024). This variant is found in the general population with an overall allele frequency of 0.012% (33/282,812 alleles) in the Genome Aggregation Database (v2.1.1). Computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.217). Functional analyses of the variant protein show similar secretion and activity compared to wild type (Stefanovics 2024). Due to limited information, the clinical significance of the p.Ala184Thr variant is uncertain at this time. References: Stefanovics R et al. Novel chymotrypsin C (CTRC) variants from real-world genetic testing of pediatric chronic pancreatitis cases. Pancreatology. 2024 Aug;24(5):690-697. PMID: 38876922.
Labcorp Genetics (formerly Invitae), Labcorp RCV001217811 SCV001389663 likely benign Hereditary pancreatitis 2024-09-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV001217811 SCV002653547 uncertain significance Hereditary pancreatitis 2024-04-13 criteria provided, single submitter clinical testing The p.A184T variant (also known as c.550G>A), located in coding exon 6 of the CTRC gene, results from a G to A substitution at nucleotide position 550. The alanine at codon 184 is replaced by threonine, an amino acid with similar properties. 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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