Submissions for variant NM_007272.3(CTRC):c.85C>T (p.Arg29Ter)

gnomAD frequency: 0.00001  dbSNP: rs747905422

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000698829	SCV000827518	pathogenic	Hereditary pancreatitis	2018-05-10	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Arg29*) in the CTRC gene. It is expected to result in an absent or disrupted protein product. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with CTRC-related disease. Loss-of-function variants in CTRC are known to be pathogenic (PMID: 22942235). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics	RCV000698829	SCV002681344	pathogenic	Hereditary pancreatitis	2024-05-31	criteria provided, single submitter	clinical testing	The p.R29* pathogenic mutation (also known as c.85C>T), located in coding exon 2 of the CTRC gene, results from a C to T substitution at nucleotide position 85. This changes the amino acid from an arginine to a stop codon within coding exon 2. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Revvity Omics, Revvity	RCV003489821	SCV004238132	likely pathogenic	not provided	2021-03-12	criteria provided, single submitter	clinical testing
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	RCV000698829	SCV004807000	likely pathogenic	Hereditary pancreatitis	2024-03-26	criteria provided, single submitter	clinical testing