ClinVar Miner

Submissions for variant NM_022168.4(IFIH1):c.871T>A (p.Ser291Thr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003441182 SCV004170294 uncertain significance not provided 2023-04-22 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV003778470 SCV004587778 uncertain significance Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 2023-06-07 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. 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on IFIH1 protein function. This variant has not been reported in the literature in individuals affected with IFIH1-related conditions. This variant is present in population databases (rs777709086, gnomAD 0.02%). This sequence change replaces serine, which is neutral and polar, with threonine, which is neutral and polar, at codon 291 of the IFIH1 protein (p.Ser291Thr).

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