Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000821796 | SCV000962568 | uncertain significance | Pyogenic arthritis-pyoderma gangrenosum-acne syndrome | 2024-01-05 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 329 of the PSTPIP1 protein (p.Ala329Val). This variant is present in population databases (rs369498554, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with PSTPIP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 663837). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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. |
| Genome Diagnostics Laboratory, |
RCV002264023 | SCV002542907 | likely benign | Autoinflammatory syndrome | 2021-03-25 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV003169027 | SCV003878404 | uncertain significance | Inborn genetic diseases | 2023-03-13 | criteria provided, single submitter | clinical testing | The c.986C>T (p.A329V) alteration is located in exon 14 (coding exon 14) of the PSTPIP1 gene. This alteration results from a C to T substitution at nucleotide position 986, causing the alanine (A) at amino acid position 329 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |