ClinVar Miner

Submissions for variant NM_007272.3(CTRC):c.324C>A (p.His108Gln)

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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 RCV002324868 SCV002609856 uncertain significance Hereditary pancreatitis 2021-06-23 criteria provided, single submitter clinical testing The p.H108Q variant (also known as c.324C>A), located in coding exon 4 of the CTRC gene, results from a C to A substitution at nucleotide position 324. The histidine at codon 108 is replaced by glutamine, an amino acid with highly 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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