ClinVar Miner

Submissions for variant NM_007272.3(CTRC):c.429_430delinsTGGC (p.Glu144fs)

dbSNP: rs1570784592
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV005234398 SCV005877009 likely pathogenic Hereditary pancreatitis 2024-07-09 criteria provided, single submitter clinical testing The CTRC c.429_430delinsTGGC; p.Glu144GlyfsTer54 variant, to our knowledge, is not reported in the medical literature or gene specific databases. This variant is also absent from the Genome Aggregation Database (v2.1.1), indicating it is not a common polymorphism. This variant causes a frameshift by deleting two nucleotides and inserting four nucleotides, so it is predicted to result in a truncated protein or mRNA subject to nonsense-mediated decay. Based on available information, this variant is considered to be likely pathogenic.

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