ClinVar Miner

Submissions for variant NM_007315.4(STAT1):c.670A>T (p.Thr224Ser)

gnomAD frequency: 0.00002  dbSNP: rs771750276
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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 RCV001907678 SCV002128185 uncertain significance Immunodeficiency 31B; Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome; Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency 2022-12-29 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 1364769). This variant has not been reported in the literature in individuals affected with STAT1-related conditions. This variant is present in population databases (rs771750276, gnomAD 0.07%). This sequence change replaces threonine, which is neutral and polar, with serine, which is neutral and polar, at codon 224 of the STAT1 protein (p.Thr224Ser).
Ambry Genetics RCV002550325 SCV003548873 uncertain significance Inborn genetic diseases 2021-10-12 criteria provided, single submitter clinical testing The c.670A>T (p.T224S) alteration is located in exon 9 (coding exon 7) of the STAT1 gene. This alteration results from a A to T substitution at nucleotide position 670, causing the threonine (T) at amino acid position 224 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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