ClinVar Miner

Submissions for variant NM_002769.5(PRSS1):c.40+15C>T

dbSNP: rs760370254
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001002209 SCV001160083 likely benign not specified 2018-07-06 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001002209 SCV001361723 uncertain significance not specified 2019-11-21 criteria provided, single submitter clinical testing Variant summary: PRSS1 c.40+15C>T alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. 5/5 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 3.2e-05 in 251482 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.40+15C>T in individuals affected with Chronic Pancreatitis Risk and no experimental evidence demonstrating an impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.
Invitae RCV002068787 SCV002389814 likely benign Hereditary pancreatitis 2021-07-10 criteria provided, single submitter clinical testing

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