ClinVar Miner

Submissions for variant NM_007272.3(CTRC):c.445C>T (p.Leu149Phe)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002328412 SCV002637164 uncertain significance Hereditary pancreatitis 2022-02-28 criteria provided, single submitter clinical testing The p.L149F variant (also known as c.445C>T), located in coding exon 5 of the CTRC gene, results from a C to T substitution at nucleotide position 445. The leucine at codon 149 is replaced by phenylalanine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Mayo Clinic Laboratories, Mayo Clinic RCV003481278 SCV004227773 uncertain significance not provided 2022-09-14 criteria provided, single submitter clinical testing PM2
Labcorp Genetics (formerly Invitae), Labcorp RCV002328412 SCV004304112 uncertain significance Hereditary pancreatitis 2024-01-18 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 149 of the CTRC protein (p.Leu149Phe). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CTRC-related conditions. ClinVar contains an entry for this variant (Variation ID: 1740761). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt CTRC protein function with a negative predictive value of 80%. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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