ClinVar Miner

Submissions for variant NM_007315.4(STAT1):c.1378A>G (p.Asn460Asp)

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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 RCV003112140 SCV003786409 uncertain significance Immunodeficiency 31B; Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome; Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency 2024-05-20 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with aspartic acid, which is acidic and polar, at codon 460 of the STAT1 protein (p.Asn460Asp). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with Mendelian susceptibility to mycobacterial disease (PMID: 31367980). ClinVar contains an entry for this variant (Variation ID: 2418896). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. This variant disrupts the p.Asn460 amino acid residue in STAT1. Other variant(s) that disrupt this residue have been observed in individuals with STAT1-related conditions (PMID: 35470942), which suggests that this may be a clinically significant amino acid residue. 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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