ClinVar Miner

Submissions for variant NM_007272.3(CTRC):c.595A>T (p.Thr199Ser)

gnomAD frequency: 0.00001  dbSNP: rs751977111
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001285209 SCV001186791 uncertain significance Hereditary pancreatitis 2023-11-21 criteria provided, single submitter clinical testing The p.T199S variant (also known as c.595A>T), located in coding exon 6 of the CTRC gene, results from an A to T substitution at nucleotide position 595. The threonine at codon 199 is replaced by serine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001285209 SCV001471607 uncertain significance Hereditary pancreatitis 2020-07-30 criteria provided, single submitter clinical testing The CTRC c.595A>T; p.Thr199Ser variant (rs751977111), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 826079). This variant is found in the Latino population with an allele frequency of 0.087% (31/35434 alleles) in the Genome Aggregation Database. The threonine at codon 199 is moderately conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is tolerated. Due to limited information, the clinical significance of the p.Thr199Ser variant is uncertain at this time.
Labcorp Genetics (formerly Invitae), Labcorp RCV001285209 SCV001601908 likely benign Hereditary pancreatitis 2025-01-30 criteria provided, single submitter clinical testing

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