Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| ARUP Laboratories, |
RCV001287383 | SCV001474069 | uncertain significance | Hereditary pancreatitis | 2020-02-20 | criteria provided, single submitter | clinical testing | The CTRC c.212C>T; p.Thr71Ile variant (rs560916216), to our knowledge, is not reported in the medical literature or gene-specific databases. This variant is found on only six chromosomes (6/251182 alleles) in the Genome Aggregation Database. The threonine at codon 71 is highly conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is deleterious. However, due to limited information, the clinical significance of the p.Thr71Ile variant is uncertain at this time. |
| Ambry Genetics | RCV001287383 | SCV002726122 | uncertain significance | Hereditary pancreatitis | 2023-04-27 | criteria provided, single submitter | clinical testing | The p.T71I variant (also known as c.212C>T), located in coding exon 3 of the CTRC gene, results from a C to T substitution at nucleotide position 212. The threonine at codon 71 is replaced by isoleucine, an amino acid with similar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6503 samples (13006 alleles) with coverage at this position. 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 variant remains unclear. |