ClinVar Miner

Submissions for variant NM_007272.3(CTRC):c.730A>G (p.Asn244Asp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004615963 SCV005104655 uncertain significance Hereditary pancreatitis 2024-03-24 criteria provided, single submitter clinical testing The p.N244D variant (also known as c.730A>G), located in coding exon 7 of the CTRC gene, results from an A to G substitution at nucleotide position 730. The asparagine at codon 244 is replaced by aspartic acid, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this alteration remains unclear.

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