ClinVar Miner

Submissions for variant NM_007315.4(STAT1):c.1169T>C (p.Met390Thr)

dbSNP: rs1553494436
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001990337 SCV002255189 uncertain significance Immunodeficiency 31B; Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome; Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency 2022-09-03 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 390 of the STAT1 protein (p.Met390Thr). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with chronic mucocutaneous candidiasis (PMID: 24343863, 27114460; Invitae). ClinVar contains an entry for this variant (Variation ID: 1465662). 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: "Probably Damaging"; Align-GVGD: "Class C0"). Experimental studies have shown that this missense change affects STAT1 function (PMID: 24343863, 28601685). 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.

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