ClinVar Miner

Submissions for variant NM_007315.4(STAT1):c.629G>A (p.Arg210Lys)

dbSNP: rs1693996119
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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 RCV001065075 SCV001230014 uncertain significance Immunodeficiency 31B; Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome; Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency 2021-04-06 criteria provided, single submitter clinical testing This variant has been observed in an individual with chronic mucocutaneous candidiasis (PMID: 26621323). 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with lysine at codon 210 of the STAT1 protein (p.Arg210Lys). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and lysine.
GeneDx RCV002511029 SCV002820557 likely pathogenic not provided 2022-12-30 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 26621323)

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