ClinVar Miner

Submissions for variant NM_002769.5(PRSS1):c.166C>T (p.Gln56Ter)

dbSNP: rs147366981
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001209513 SCV001380950 benign Hereditary pancreatitis 2022-10-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV001209513 SCV002703063 uncertain significance Hereditary pancreatitis 2025-02-25 criteria provided, single submitter clinical testing The p.Q56* variant (also known as c.166C>T), located in coding exon 2 of the PRSS1 gene, results from a C to T substitution at nucleotide position 166. This changes the amino acid from a glutamine to a stop codon within coding exon 2. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. However, loss of function of PRSS1 has not been clearly established as a mechanism of disease. Based on the available evidence, the clinical significance of this variant remains unclear.
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001209513 SCV005916482 uncertain significance Hereditary pancreatitis 2023-04-01 criteria provided, single submitter research

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