ClinVar Miner

Submissions for variant NM_007272.3(CTRC):c.13A>G (p.Thr5Ala)

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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 RCV004615972 SCV005104666 uncertain significance Hereditary pancreatitis 2024-04-24 criteria provided, single submitter clinical testing The p.T5A variant (also known as c.13A>G), located in coding exon 1 of the CTRC gene, results from an A to G substitution at nucleotide position 13. The threonine at codon 5 is replaced by alanine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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