ClinVar Miner

Submissions for variant NM_003978.5(PSTPIP1):c.831G>T (p.Glu277Asp)

gnomAD frequency: 0.00001  dbSNP: rs990986006
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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 RCV001313548 SCV001504047 uncertain significance Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 2023-10-03 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with aspartic acid, which is acidic and polar, at codon 277 of the PSTPIP1 protein (p.Glu277Asp). This variant is present in population databases (no rsID available, gnomAD 0.003%). This missense change has been observed in individual(s) with clinical features of PAPA syndrome (PMID: 23571383, 26386126). ClinVar contains an entry for this variant (Variation ID: 1014768). 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 PSTPIP1 protein function. Experimental studies have shown that this missense change does not substantially affect PSTPIP1 function (PMID: 35152348). 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.
OMIM RCV004779055 SCV005326572 uncertain significance not provided 2024-09-23 no assertion criteria provided literature only

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