ClinVar Miner

Submissions for variant NC_000007.13:g.(?_142459615)_(142460871_?)dup

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001379638 SCV001577472 likely pathogenic Hereditary pancreatitis 2022-05-09 criteria provided, single submitter clinical testing This variant results in a copy number gain of the genomic region encompassing exon(s) 3-5 of the PRSS1 gene. This region includes the termination codon of the gene. This copy number gain extends beyond the assayed region for this gene and therefore may encompass additional genes. As the precise location of this event is unknown, it may be in tandem or it may be located elsewhere in the genome. A similar copy number variant has been observed in individual(s) with chronic pancreatitis (PMID: 18461367; Invitae). It has also been observed to segregate with disease in related individuals. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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