ClinVar Miner

Submissions for variant NM_002769.5(PRSS1):c.453C>T (p.Gly151=) (rs147765409)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000468352 SCV000552150 uncertain significance Hereditary pancreatitis 2020-01-14 criteria provided, single submitter clinical testing This sequence change affects codon 151 of the PRSS1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the PRSS1 protein. This variant is present in population databases (rs147765409, ExAC 0.08%), and has an allele count higher than expected for a pathogenic variant (PMID: 28166811). This variant has not been reported in the literature in individuals with PRSS1-related disease. ClinVar contains an entry for this variant (Variation ID: 411135). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000507889 SCV000604928 likely benign not specified 2016-11-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV001022668 SCV001184428 likely benign Inborn genetic diseases 2018-04-30 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign

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