Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000084064 | SCV001039550 | likely benign | Pyogenic arthritis-pyoderma gangrenosum-acne syndrome | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001545655 | SCV001765031 | likely benign | not provided | 2019-08-26 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 19584923, 23426477) |
Prevention |
RCV003398691 | SCV004120254 | uncertain significance | PSTPIP1-related condition | 2023-02-20 | criteria provided, single submitter | clinical testing | The PSTPIP1 c.796G>A variant is predicted to result in the amino acid substitution p.Asp266Asn. This variant has been reported to be associated with PAPA syndrome (Waite et al. 2009. PubMed ID: 19584923), however in silico analyses suggest this variant does not impact protein function. This variant is reported in 0.075% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/15-77324693-G-A), which may be too common to be causative. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |
Unité médicale des maladies autoinflammatoires, |
RCV000084064 | SCV000116187 | not provided | Pyogenic arthritis-pyoderma gangrenosum-acne syndrome | no assertion provided | not provided |