ClinVar Miner

Submissions for variant NM_002769.5(PRSS1):c.86A>G (p.Asn29Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003386531 SCV004088923 uncertain significance Hereditary pancreatitis 2023-08-12 criteria provided, single submitter clinical testing The p.N29S variant (also known as c.86A>G), located in coding exon 2 of the PRSS1 gene, results from an A to G substitution at nucleotide position 86. The asparagine at codon 29 is replaced by serine, an amino acid with highly similar properties. This amino acid position is poorly conserved in available vertebrate species. 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003386531 SCV004474585 uncertain significance Hereditary pancreatitis 2023-06-16 criteria provided, single submitter clinical testing This variant disrupts the p.Asn29 amino acid residue in PRSS1. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 2539344, 10801865, 11097832, 18755888, 19453252). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt PRSS1 protein function. This variant has not been reported in the literature in individuals affected with PRSS1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 29 of the PRSS1 protein (p.Asn29Ser). 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.

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