Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001979022 | SCV002217859 | uncertain significance | Pyogenic arthritis-pyoderma gangrenosum-acne syndrome | 2022-09-16 | criteria provided, single submitter | clinical testing | Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt PSTPIP1 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. ClinVar contains an entry for this variant (Variation ID: 1441089). This variant has not been reported in the literature in individuals affected with PSTPIP1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.001%). This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 132 of the PSTPIP1 protein (p.Ser132Leu). |
| Ambry Genetics | RCV004656767 | SCV005157933 | uncertain significance | Inborn genetic diseases | 2024-06-18 | criteria provided, single submitter | clinical testing | The c.395C>T (p.S132L) alteration is located in exon 6 (coding exon 6) of the PSTPIP1 gene. This alteration results from a C to T substitution at nucleotide position 395, causing the serine (S) at amino acid position 132 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
| Breakthrough Genomics, |
RCV004694026 | SCV005193945 | uncertain significance | not provided | criteria provided, single submitter | not provided | ||
| Prevention |
RCV004753447 | SCV005360975 | uncertain significance | PSTPIP1-related disorder | 2024-04-03 | no assertion criteria provided | clinical testing | The PSTPIP1 c.395C>T variant is predicted to result in the amino acid substitution p.Ser132Leu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0011% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |