Submissions for variant NM_003978.5(PSTPIP1):c.1207G>C (p.Gly403Arg)

dbSNP: rs369113632

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000999831	SCV000604948	uncertain significance	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	2022-05-03	criteria provided, single submitter	clinical testing	The PSTPIP1 c.1207G>C; p.Gly403Arg variant (rs369113632) has been published in the literature in an individual with pyoderma gangrenosum (Zeeli 2015). The variant is reported in the ClinVar database (Variation ID: 440207) and in the general population with an overall allele frequency of 0.03% (77/246,962 alleles, including 1 homozygote) in the Genome Aggregation Database. The glycine at codon 403 is moderately conserved, and computational analyses predict that this variant is deleterious (REVEL: 0.715). Due to limited information, the clinical significance of the p.Gly403Arg variant is uncertain at this time. References: Zeeli T et al. Pyoderma gangrenosum, acne and ulcerative colitis in a patient with a novel mutation in the PSTPIP1 gene. Clin Exp Dermatol. 2015 40(4):367-72. PMID: 25683018.
GeneDx	RCV001722433	SCV000616836	likely benign	not provided	2020-07-27	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 27464597, 25683018, 28593717)
Invitae	RCV000999831	SCV000642077	benign	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	2023-12-05	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002263716	SCV002542853	uncertain significance	Autoinflammatory syndrome	2021-08-31	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV000999831	SCV003817995	uncertain significance	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	2021-05-20	criteria provided, single submitter	clinical testing