ClinVar Miner

Submissions for variant NM_007272.3(CTRC):c.368C>T (p.Ala123Val)

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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 RCV003382237 SCV004097952 uncertain significance Hereditary pancreatitis 2023-07-26 criteria provided, single submitter clinical testing The p.A123V variant (also known as c.368C>T), located in coding exon 5 of the CTRC gene, results from a C to T substitution at nucleotide position 368. The alanine at codon 123 is replaced by valine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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