ClinVar Miner

Submissions for variant NC_000001.10:g.(?_15764955)_(15773090_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000634004 SCV000755278 pathogenic Hereditary pancreatitis 2017-12-04 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the CTRC gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. A heterozygous deletion including CTRC and several other genes was observed in a family affected with chronic pancreatitis. In addition, another homozygous deletion encompassing CTRC and neighboring genes was observed in an individual with portal hypertension, exocrine pancreatic insufficiency, and indolent pancreatic cysts and calcifications  (PMID: 23721890). Loss-of-function variants in CTRC are known to be pathogenic (PMID: 22942235). For these reasons, this variant has been classified as Pathogenic.

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