ClinVar Miner

Submissions for variant NM_007315.4(STAT1):c.380C>T (p.Ser127Leu)

gnomAD frequency: 0.00001  dbSNP: rs768483703
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000706821 SCV000835894 uncertain significance Immunodeficiency 31B; Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome; Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces serine with leucine at codon 127 of the STAT1 protein (p.Ser127Leu). The serine residue is weakly conserved and there is a large physicochemical difference between serine and leucine. This variant is present in population databases (rs768483703, ExAC 0.003%). This variant has not been reported in the literature in individuals affected with STAT1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The leucine 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.
PreventionGenetics, part of Exact Sciences RCV004735761 SCV005359540 uncertain significance STAT1-related disorder 2024-08-27 no assertion criteria provided clinical testing The STAT1 c.380C>T variant is predicted to result in the amino acid substitution p.Ser127Leu. To our knowledge, this variant has not been reported in the literature in individuals with STAT1-related disease. This variant is reported in 0.0031% 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.

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