ClinVar Miner

Submissions for variant NM_007272.3(CTRC):c.700A>G (p.Ile234Val)

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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 RCV002364811 SCV002661959 uncertain significance Hereditary pancreatitis 2021-10-06 criteria provided, single submitter clinical testing The p.I234V variant (also known as c.700A>G), located in coding exon 7 of the CTRC gene, results from an A to G substitution at nucleotide position 700. The isoleucine at codon 234 is replaced by valine, an amino acid with highly 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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