Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001891776 | SCV002177203 | uncertain significance | Pyogenic arthritis-pyoderma gangrenosum-acne syndrome | 2022-08-15 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with PSTPIP1-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces lysine, which is basic and polar, with threonine, which is neutral and polar, at codon 142 of the PSTPIP1 protein (p.Lys142Thr). ClinVar contains an entry for this variant (Variation ID: 1397678). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). |
| Ambry Genetics | RCV002555256 | SCV003648426 | uncertain significance | Inborn genetic diseases | 2022-09-22 | criteria provided, single submitter | clinical testing | The c.425A>C (p.K142T) alteration is located in exon 7 (coding exon 7) of the PSTPIP1 gene. This alteration results from a A to C substitution at nucleotide position 425, causing the lysine (K) at amino acid position 142 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |