ClinVar Miner

Submissions for variant NM_007272.3(CTRC):c.443T>A (p.Leu148Gln)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003382242 SCV004097957 uncertain significance Hereditary pancreatitis 2023-08-31 criteria provided, single submitter clinical testing The p.L148Q variant (also known as c.443T>A), located in coding exon 5 of the CTRC gene, results from a T to A substitution at nucleotide position 443. The leucine at codon 148 is replaced by glutamine, an amino acid with dissimilar properties. This amino acid position is not well 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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