ClinVar Miner

Submissions for variant NM_005419.4(STAT2):c.250C>A (p.Gln84Lys)

gnomAD frequency: 0.00024  dbSNP: rs150901100
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000788163 SCV000927188 uncertain significance not provided 2017-03-06 criteria provided, single submitter clinical testing
Invitae RCV000802910 SCV000942759 uncertain significance Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection 2024-01-02 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with lysine, which is basic and polar, at codon 84 of the STAT2 protein (p.Gln84Lys). This variant is present in population databases (rs150901100, gnomAD 0.08%). This missense change has been observed in individual(s) with clinical features of primary immunodeficiency (PMID: 32135276). ClinVar contains an entry for this variant (Variation ID: 636366). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt STAT2 protein function with a negative predictive value of 80%. 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.
Revvity Omics, Revvity RCV000788163 SCV003825858 uncertain significance not provided 2022-09-06 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000788163 SCV004133481 uncertain significance not provided 2023-07-01 criteria provided, single submitter clinical testing STAT2: PM2, BP4
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital RCV003117577 SCV003798477 likely risk allele Susceptibility to severe COVID-19 2022-07-01 no assertion criteria provided research

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