ClinVar Miner

Submissions for variant NM_007272.3(CTRC):c.48C>G (p.Ser16Arg)

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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 RCV002340608 SCV002638895 uncertain significance Hereditary pancreatitis 2020-12-31 criteria provided, single submitter clinical testing The p.S16R variant (also known as c.48C>G), located in coding exon 2 of the CTRC gene, results from a C to G substitution at nucleotide position 48. The serine at codon 16 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is not well conserved in available vertebrate species. 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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