ClinVar Miner

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

dbSNP: rs147366981
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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 RCV001209513 SCV001380950 benign Hereditary pancreatitis 2022-10-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV001209513 SCV002703063 uncertain significance Hereditary pancreatitis 2022-07-01 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. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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