ClinVar Miner

Submissions for variant NM_007272.3(CTRC):c.344C>T (p.Ala115Val)

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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 RCV003213808 SCV003912857 uncertain significance Hereditary pancreatitis 2023-03-11 criteria provided, single submitter clinical testing The p.A115V variant (also known as c.344C>T), located in coding exon 4 of the CTRC gene, results from a C to T substitution at nucleotide position 344. The alanine at codon 115 is replaced by valine, 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. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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