Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001383601 | SCV001582801 | pathogenic | Immunodeficiency 31B; Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome; Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency | 2022-06-27 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. Experimental studies have shown that this missense change affects STAT1 function (PMID: 21727188). 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"). ClinVar contains an entry for this variant (Variation ID: 30087). This missense change has been observed in individuals with chronic mucocutaneous candidiasis or cutaneous fusariosis (PMID: 21727188, 23245795, 24343863, 26604104). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 202 of the STAT1 protein (p.Met202Val). |
| OMIM | RCV000022990 | SCV000044281 | pathogenic | Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome | 2011-08-01 | no assertion criteria provided | literature only |