ClinVar Miner

Submissions for variant NM_007272.3(CTRC):c.778G>C (p.Asp260His)

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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 RCV004615957 SCV005105701 uncertain significance Hereditary pancreatitis 2024-06-12 criteria provided, single submitter clinical testing The p.D260H variant (also known as c.778G>C), located in coding exon 7 of the CTRC gene, results from a G to C substitution at nucleotide position 778. The aspartic acid at codon 260 is replaced by histidine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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