Submissions for variant NM_003978.5(PSTPIP1):c.773G>C (p.Gly258Ala)

gnomAD frequency: 0.01363  dbSNP: rs34240327

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000245162	SCV000309902	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000400459	SCV000394003	benign	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	2018-03-06	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000400459	SCV000604949	benign	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	2023-11-22	criteria provided, single submitter	clinical testing
Invitae	RCV000400459	SCV000642085	benign	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	2024-01-29	criteria provided, single submitter	clinical testing
GeneDx	RCV001573341	SCV001845058	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 27884173, 21790734, 24233262, 23426477)
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002262888	SCV002542897	benign	Autoinflammatory syndrome	2022-02-18	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001573341	SCV002545293	benign	not provided	2024-04-01	criteria provided, single submitter	clinical testing	PSTPIP1: BP4, BS1, BS2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001573341	SCV001799069	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000245162	SCV001930513	benign	not specified		no assertion criteria provided	clinical testing