ClinVar Miner

Submissions for variant NM_007272.3(CTRC):c.788A>G (p.Asn263Ser)

dbSNP: rs769975164
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001949364 SCV002247072 likely benign Hereditary pancreatitis 2024-01-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV001949364 SCV002675590 uncertain significance Hereditary pancreatitis 2023-06-01 criteria provided, single submitter clinical testing The p.N263S variant (also known as c.788A>G), located in coding exon 7 of the CTRC gene, results from an A to G substitution at nucleotide position 788. The asparagine at codon 263 is replaced by serine, an amino acid with highly similar properties. This alteration was identified in 1/126 Chinese individuals with chronic pancreatitis and was not identified in 90 controls (Chang MC et al. Pancreatology 2009 Apr;9(3):287-92). 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.

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