ClinVar Miner

Submissions for variant NM_007272.3(CTRC):c.133A>G (p.Ile45Val)

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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 RCV004615982 SCV005104676 uncertain significance Hereditary pancreatitis 2024-05-18 criteria provided, single submitter clinical testing The p.I45V variant (also known as c.133A>G) is located in coding exon 3 of the CTRC gene. The isoleucine at codon 45 is replaced by valine, an amino acid with highly similar properties. This change occurs in the first base pair of coding exon 3. 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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