ClinVar Miner

Submissions for variant NM_003978.5(PSTPIP1):c.1206C>T (p.Asn402=)

gnomAD frequency: 0.00308  dbSNP: rs146035424
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000127643 SCV000171222 benign not specified 2012-09-13 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000127643 SCV000604953 benign not specified 2016-12-14 criteria provided, single submitter clinical testing
Invitae RCV000642405 SCV000764076 benign Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 2024-01-29 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000642405 SCV001276566 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.
CeGaT Center for Human Genetics Tuebingen RCV003398748 SCV004137435 benign not provided 2022-06-01 criteria provided, single submitter clinical testing PSTPIP1: BS1, BS2

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.