Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000235268 | SCV000293135 | likely benign | not specified | 2017-09-20 | 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. |
Illumina Laboratory Services, |
RCV000341458 | SCV000394022 | 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 | RCV000341458 | SCV001013437 | benign | Pyogenic arthritis-pyoderma gangrenosum-acne syndrome | 2023-11-28 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000341458 | SCV001472086 | uncertain significance | Pyogenic arthritis-pyoderma gangrenosum-acne syndrome | 2023-10-26 | criteria provided, single submitter | clinical testing | The PSTPIP1 c.1221C>A, p.Phe407Leu variant (rs200363654), to our knowledge, is not reported in the medical literature or gene-specific databases. The variant is listed in the ClinVar database (Variation ID: 245930) and in the general population with an overall population frequency of 0.07% (198/276,714 alleles) in the Genome Aggregation Database. The amino acid at this position is moderately conserved and computational algorithms (PolyPhen-2, SIFT) predict this variant is tolerated. Due to limited information, the clinical significance of this variant cannot be determined. |
Genome Diagnostics Laboratory, |
RCV002262856 | SCV002542857 | likely benign | Autoinflammatory syndrome | 2019-11-01 | criteria provided, single submitter | clinical testing |