ClinVar Miner

Submissions for variant NM_002769.5(PRSS1):c.68A>G (p.Lys23Arg) (rs111033567)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000012653 SCV000953374 likely pathogenic Hereditary pancreatitis 2018-09-02 criteria provided, single submitter clinical testing This sequence change replaces lysine with arginine at codon 23 of the PRSS1 protein (p.Lys23Arg). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with pancreatitis (PMID: 25383785), including two individuals with hereditary pancreatitis from one family (PMID: 10204851). ClinVar contains an entry for this variant (Variation ID: 11878). Experimental studies have shown that this missense change disrupts normal PRSS1 protein function resulting in a gain of trypsinogen activity (PMID: 23601753, 16036133, 10930381). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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.
OMIM RCV000012653 SCV000032888 pathogenic Hereditary pancreatitis 1999-03-01 no assertion criteria provided literature only
GeneReviews RCV000012653 SCV000054564 pathologic Hereditary pancreatitis 2012-03-01 no assertion criteria provided curation Converted during submission to Pathogenic.

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