Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV001002578 | SCV001160551 | uncertain significance | Pyogenic arthritis-pyoderma gangrenosum-acne syndrome | 2019-05-18 | criteria provided, single submitter | clinical testing | The PSTPIP1 c.739G>A; p.Glu247Lys variant (rs1283948312), to our knowledge, is not reported in the medical literature or gene-specific databases. The variant is reported in the general population in 1 out of 248008 alleles, indicating it is not a common polymorphism. The amino acid at this position is highly conserved and computational algorithms (PolyPhen-2, SIFT) predict this variant is deleterious. Due to limited information, the clinical significance of the variant is uncertain at this time. |