Submissions for variant NM_003978.5(PSTPIP1):c.418-6C>A

gnomAD frequency: 0.00034  dbSNP: rs200018722

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000508131	SCV000604957	uncertain significance	not specified	2017-03-31	criteria provided, single submitter	clinical testing
Invitae	RCV000872003	SCV001013748	benign	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	2023-12-25	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000872003	SCV001274855	benign	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	2018-01-12	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.
GeneDx	RCV002254927	SCV002526268	uncertain significance	not provided	2022-06-08	criteria provided, single submitter	clinical testing	In silico analysis, which includes splice predictors and evolutionary conservation, suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; Has not been previously published as pathogenic or benign to our knowledge
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002263718	SCV002542871	uncertain significance	Autoinflammatory syndrome	2017-12-01	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003902811	SCV004720583	likely benign	PSTPIP1-related condition	2019-06-18	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).