ClinVar Miner

Submissions for variant NM_007272.3(CTRC):c.246C>A (p.Tyr82Ter)

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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 RCV004517329 SCV005025682 pathogenic Hereditary pancreatitis 2023-12-19 criteria provided, single submitter clinical testing The p.Y82* pathogenic mutation (also known as c.246C>A), located in coding exon 4 of the CTRC gene, results from a C to A substitution at nucleotide position 246. This changes the amino acid from a tyrosine to a stop codon within coding exon 4. 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.

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