ClinVar Miner

Submissions for variant NM_007272.3(CTRC):c.307G>A (p.Gly103Ser)

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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 RCV002319871 SCV002608816 uncertain significance Hereditary pancreatitis 2022-04-24 criteria provided, single submitter clinical testing The p.G103S variant (also known as c.307G>A), located in coding exon 4 of the CTRC gene, results from a G to A substitution at nucleotide position 307. The glycine at codon 103 is replaced by serine, 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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