Submissions for variant NM_007272.3(CTRC):c.499G>C (p.Gly167Arg)

dbSNP: rs141205711

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001000955	SCV001158054	uncertain significance	Hereditary pancreatitis	2018-12-12	criteria provided, single submitter	clinical testing	The CTRC c.499G>C; p.Gly167Arg variant (rs141205711), to our knowledge, is not reported in the medical literature or gene specific databases. This variant is only observed on two alleles in the Genome Aggregation Database, indicating it is not a common polymorphism. The glycine at codon 167 is highly conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is deleterious. Due to limited information, the clinical significance of the p.Gly167Arg variant is uncertain at this time.
Ambry Genetics	RCV001000955	SCV002640666	uncertain significance	Hereditary pancreatitis	2024-11-16	criteria provided, single submitter	clinical testing	The p.G167R variant (also known as c.499G>C), located in coding exon 6 of the CTRC gene, results from a G to C substitution at nucleotide position 499. The glycine at codon 167 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen	RCV003424524	SCV004128569	uncertain significance	not provided	2023-01-01	criteria provided, single submitter	clinical testing	CTRC: PM2