ClinVar Miner

Submissions for variant NC_000007.13:g.(?_142457330)_(142460424_?)dup

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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 RCV000258047 SCV000328222 pathogenic Hereditary pancreatitis 2016-02-07 criteria provided, single submitter clinical testing A gross duplication of the genomic region encompassing the full coding sequence of the PRSS1 gene has been identified. The boundaries of this event are unknown as the duplication extends beyond the assayed region for this gene and therefore may encompass additional genes. As the precise location of this duplication is unknown, it may be in tandem or it may be located elsewhere in the genome. Copy number gains of the entire PRSS1 gene, including both triplications and duplications, have been reported in ~6% of patients with chronic pancreatitis (CP) and increased gene dosage of PRSS1 is consistent with current understanding of CP etiology (PMID: 17072318, 18063422, 19584086, 19453252). For these reason, this duplication has been classified as Pathogenic.

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