ClinVar Miner

Submissions for variant NM_003978.5(PSTPIP1):c.1043T>C (p.Ile348Thr)

gnomAD frequency: 0.00001  dbSNP: rs1309288797
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000995403 SCV001149545 uncertain significance not provided 2017-12-01 criteria provided, single submitter clinical testing
Invitae RCV002550678 SCV003201259 uncertain significance Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 2023-08-30 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. 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. ClinVar contains an entry for this variant (Variation ID: 807295). This variant has not been reported in the literature in individuals affected with PSTPIP1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.01%). This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 348 of the PSTPIP1 protein (p.Ile348Thr).

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