ClinVar Miner

Submissions for variant NM_002769.5(PRSS1):c.266A>T (p.Asn89Ile)

dbSNP: rs1446407497
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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 RCV001888660 SCV002152824 uncertain significance Hereditary pancreatitis 2021-01-15 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C25"). This variant has not been reported in the literature in individuals with PRSS1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces asparagine with isoleucine at codon 89 of the PRSS1 protein (p.Asn89Ile). The asparagine residue is highly conserved and there is a large physicochemical difference between asparagine and isoleucine.
Ambry Genetics RCV001888660 SCV002743860 uncertain significance Hereditary pancreatitis 2022-07-19 criteria provided, single submitter clinical testing The p.N89I variant (also known as c.266A>T), located in coding exon 3 of the PRSS1 gene, results from an A to T substitution at nucleotide position 266. The asparagine at codon 89 is replaced by isoleucine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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