ClinVar Miner

Submissions for variant NM_002769.5(PRSS1):c.417C>T (p.Cys139=)

gnomAD frequency: 0.00032  dbSNP: rs141847266
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001081096 SCV000755276 benign Hereditary pancreatitis 2024-01-10 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756567 SCV000884412 likely benign not provided 2017-11-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV001081096 SCV002626578 likely benign Hereditary pancreatitis 2015-07-24 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003987633 SCV004804263 benign not specified 2024-01-08 criteria provided, single submitter clinical testing

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