ClinVar Miner

Submissions for variant NM_003978.5(PSTPIP1):c.478C>A (p.Arg160Ser)

gnomAD frequency: 0.00001  dbSNP: rs1397291808
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001295757 SCV001484702 uncertain significance Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 2023-07-12 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with serine, which is neutral and polar, at codon 160 of the PSTPIP1 protein (p.Arg160Ser). This variant is present in population databases (no rsID available, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with PSTPIP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 999723). 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. 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.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002264256 SCV002542876 uncertain significance Autoinflammatory syndrome 2022-01-17 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV003481057 SCV004227443 uncertain significance not provided 2022-12-16 criteria provided, single submitter clinical testing BP4

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