ClinVar Miner

Submissions for variant NM_007272.3(CTRC):c.640-14C>T

gnomAD frequency: 0.00060  dbSNP: rs202049497
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001287787 SCV001474517 likely benign Hereditary pancreatitis 2020-12-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001287787 SCV002406272 benign Hereditary pancreatitis 2023-12-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV001287787 SCV002660218 uncertain significance Hereditary pancreatitis 2014-05-27 criteria provided, single submitter clinical testing The c.640-14C>T intronic variant results from a C to T substitution 14 nucleotides upstream from coding exon 7 in the CTRC gene. This variant was previously reported in the SNPDatabase as rs202049497. Based on data from the 1000 Genomes Project, the T allele has an overall frequency of approximately 0.09% (2/2184) total alleles studied. The highest observed frequency was 0.91% (1/110) Puerto Rican alleles. Based on data from the NHLBI Exome Sequencing Project (ESP), the T allele has an overall frequency of approximately 0.1% (13/13006) total alleles studied, having been observed in 0.3% (13/4406) African American alleles. This nucleotide position is not conserved in available vertebrate species, and the T-allele is present in multiple species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is not predicted to have any significant effect on this acceptor splice site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.
PreventionGenetics, part of Exact Sciences RCV003973185 SCV004789178 likely benign CTRC-related disorder 2019-05-01 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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