Submissions for variant NM_003978.5(PSTPIP1):c.1098G>A (p.Ala366=)

gnomAD frequency: 0.00501  dbSNP: rs35538044

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000248471	SCV000309897	likely benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000388502	SCV000394014	benign	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	2018-01-13	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.
Invitae	RCV000388502	SCV000642072	benign	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	2024-01-29	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000388502	SCV001159280	benign	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	2023-11-29	criteria provided, single submitter	clinical testing
GeneDx	RCV001706339	SCV001870739	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002262886	SCV002542841	benign	Autoinflammatory syndrome	2021-04-12	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001706339	SCV004137433	likely benign	not provided	2023-10-01	criteria provided, single submitter	clinical testing	PSTPIP1: BP4, BP7, BS2
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000248471	SCV001929242	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001706339	SCV001965464	likely benign	not provided		no assertion criteria provided	clinical testing