ClinVar Miner

Submissions for variant NM_007315.4(STAT1):c.2230G>A (p.Asp744Asn)

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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 RCV002755579 SCV003012151 uncertain significance Immunodeficiency 31B; Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome; Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency 2022-03-29 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 744 of the STAT1 protein (p.Asp744Asn). 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with STAT1-related conditions. This variant is present in population databases (rs780156389, gnomAD 0.006%).
Ambry Genetics RCV003167701 SCV003908151 uncertain significance Inborn genetic diseases 2023-02-27 criteria provided, single submitter clinical testing The c.2230G>A (p.D744N) alteration is located in exon 24 (coding exon 22) of the STAT1 gene. This alteration results from a G to A substitution at nucleotide position 2230, causing the aspartic acid (D) at amino acid position 744 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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