ClinVar Miner

Submissions for variant NM_007272.3(CTRC):c.82G>T (p.Ala28Ser)

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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 RCV002430345 SCV002679301 uncertain significance Hereditary pancreatitis 2022-08-22 criteria provided, single submitter clinical testing The p.A28S variant (also known as c.82G>T), located in coding exon 2 of the CTRC gene, results from a G to T substitution at nucleotide position 82. The alanine at codon 28 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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