Submissions for variant NM_007272.3(CTRC):c.753_754insAACACCCGCAAGAAGCCGGTACTC (p.Val251_Tyr252insAsnThrArgLysLysProValLeu)

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV003847722	SCV004643438	uncertain significance	Hereditary pancreatitis	2023-01-28	criteria provided, single submitter	clinical testing	In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has not been reported in the literature in individuals affected with CTRC-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.01%). This variant, c.753_754insAACACCCGCAAGAAGCCGGTACTC, results in the insertion of 8 amino acid(s) of the CTRC protein (p.Val251_Tyr252insAsnThrArgLysLysProValLeu), but otherwise preserves the integrity of the reading frame.
Ambry Genetics	RCV003847722	SCV005105705	uncertain significance	Hereditary pancreatitis	2024-04-25	criteria provided, single submitter	clinical testing	The c.753_754ins24 variant (also known as p.V251_Y252insNTRKKPVL), located in coding exon 7 of the CTRC gene, results from an in-frame 24 nucleotide insertion at nucleotide positions 753 to 754. This results in the insertion of an extra 8 residues (NTRKKPVL) between codons 251 and 252. This amino acid region is generally well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Based on the available evidence, the clinical significance of this variant remains unclear.