ClinVar Miner

Submissions for variant NM_007272.3(CTRC):c.539T>C (p.Val180Ala)

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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 RCV003213797 SCV003912844 uncertain significance Hereditary pancreatitis 2023-02-23 criteria provided, single submitter clinical testing The p.V180A variant (also known as c.539T>C), located in coding exon 6 of the CTRC gene, results from a T to C substitution at nucleotide position 539. The valine at codon 180 is replaced by alanine, an amino acid with 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.

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