ClinVar Miner

Submissions for variant NM_002769.5(PRSS1):c.455-3C>A

gnomAD frequency: 0.00001  dbSNP: rs760226452
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001992784 SCV002224562 uncertain significance Hereditary pancreatitis 2022-02-12 criteria provided, single submitter clinical testing 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. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This sequence change falls in intron 3 of the PRSS1 gene. It does not directly change the encoded amino acid sequence of the PRSS1 protein. It affects a nucleotide within the consensus splice site. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with PRSS1-related conditions.
Ambry Genetics RCV001992784 SCV002634226 uncertain significance Hereditary pancreatitis 2020-10-29 criteria provided, single submitter clinical testing The c.455-3C>A intronic variant results from a C to A substitution 3 nucleotides upstream from coding exon 4 in the PRSS1 gene. This nucleotide position is poorly conserved in available vertebrate species. In silico splice site analysis for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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