ClinVar Miner

Submissions for variant NM_005419.4(STAT2):c.1466C>T (p.Pro489Leu)

dbSNP: rs138681270
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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 RCV000788162 SCV000927185 uncertain significance not provided 2017-03-06 criteria provided, single submitter clinical testing
Invitae RCV000802302 SCV000942127 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 proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 489 of the STAT2 protein (p.Pro489Leu). This variant is present in population databases (rs138681270, 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: 636365). 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 expected to disrupt STAT2 protein function with a positive 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 RCV000788162 SCV003818103 uncertain significance not provided 2022-09-06 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000788162 SCV004133479 uncertain significance not provided 2023-07-01 criteria provided, single submitter clinical testing STAT2: PM2
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital RCV003117576 SCV003798476 likely risk allele Susceptibility to severe COVID-19 2022-07-01 no assertion criteria provided research

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