ClinVar Miner

Submissions for variant NM_003978.5(PSTPIP1):c.37T>G (p.Cys13Gly)

gnomAD frequency: 0.00013  dbSNP: rs376128040
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000231124 SCV000291948 uncertain significance not provided 2014-03-04 criteria provided, single submitter clinical testing The C13G variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The C13G variant was not observed at a significant frequency in individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The C13G variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs within the conserved FCH domain. However, the pathogenicity of missense changes in this region of the PSTPIP1 protein is unclear, as all currently known mutations associated with PAPA syndrome have been identified in the coiled-coil domain region. In silico analysis predicts this variant likely does not alter the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant.
Invitae RCV001514746 SCV001722665 benign Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 2024-01-20 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002262843 SCV002542870 uncertain significance Autoinflammatory syndrome 2018-07-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002518394 SCV003746093 uncertain significance Inborn genetic diseases 2021-10-12 criteria provided, single submitter clinical testing The c.37T>G (p.C13G) alteration is located in exon 2 (coding exon 2) of the PSTPIP1 gene. This alteration results from a T to G substitution at nucleotide position 37, causing the cysteine (C) at amino acid position 13 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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.