Submissions for variant NM_003978.5(PSTPIP1):c.1151A>G (p.Asp384Gly)

gnomAD frequency: 0.00025  dbSNP: rs200771233

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000757701	SCV000291954	likely benign	not provided	2021-09-02	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000335704	SCV000394019	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.
Invitae	RCV000335704	SCV000642076	benign	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	2024-01-31	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000757701	SCV000886023	likely benign	not provided	2018-06-11	criteria provided, single submitter	clinical testing	The PSTPIP1 c.1151A>G: p.Asp384Gly variant (rs200771233), to our knowledge, is not reported in the medical literature or in gene-specific databases. The variant is listed in the ClinVar database (Variation ID: 242305) and in the Genome Aggregation Database in 0.7% (221/30776 alleles, 2 homozygotes) of the South Asian population. The aspartic acid at this position is weakly conserved but computational analyses (SIFT, PolyPhen-2) predict that this variant is deleterious. Considering the increased allele frequency and the presence of homozygotes, this variant is considered likely benign.
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002262845	SCV002542851	likely benign	Autoinflammatory syndrome	2021-05-31	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000757701	SCV002545294	likely benign	not provided	2022-12-01	criteria provided, single submitter	clinical testing	PSTPIP1: BS2
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000757701	SCV001978428	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000757701	SCV001980458	likely benign	not provided		no assertion criteria provided	clinical testing