ClinVar Miner

Submissions for variant NM_002769.5(PRSS1):c.66C>G (p.Asp22Glu)

dbSNP: rs1585978624
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000812652 SCV000952972 uncertain significance Hereditary pancreatitis 2023-02-08 criteria provided, single submitter clinical testing Experimental studies have shown that this missense change affects PRSS1 function (PMID: 15970597). 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. 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. ClinVar contains an entry for this variant (Variation ID: 656268). 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 aspartic acid, which is acidic and polar, with glutamic acid, which is acidic and polar, at codon 22 of the PRSS1 protein (p.Asp22Glu).

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