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

gnomAD frequency: 0.00009  dbSNP: rs761546594

Total submissions: 3

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	2023-06-13	criteria provided, single submitter	clinical testing	The CTRC c.550G>A; p.Ala184Thr variant (rs761546594), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 618054). This variant is found in the general population with an overall allele frequency of 0.01% (33/282812 alleles) in the Genome Aggregation Database. Computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.217). Due to limited information, the clinical significance of the p.Ala184Thr variant is uncertain at this time.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001217811	SCV001389663	likely benign	Hereditary pancreatitis	2023-09-18	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.