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

gnomAD frequency: 0.00001  dbSNP: rs1397291808

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	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