ClinVar Miner

Submissions for variant NM_022168.4(IFIH1):c.1166G>A (p.Gly389Glu)

gnomAD frequency: 0.00003  dbSNP: rs765985079
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000298018 SCV000345781 uncertain significance not provided 2016-09-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000764272 SCV000895288 uncertain significance Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000764272 SCV001219659 uncertain significance Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 2023-11-25 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 389 of the IFIH1 protein (p.Gly389Glu). This variant is present in population databases (rs765985079, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with IFIH1-related conditions. ClinVar contains an entry for this variant (Variation ID: 291088). Advanced modeling performed at Invitae incorporating data from internal and/or published experimental studies (Invitae) indicates that this missense variant is not expected to disrupt IFIH1 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.
GeneDx RCV000298018 SCV002000503 uncertain significance not provided 2021-04-15 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); 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
PreventionGenetics, part of Exact Sciences RCV003417923 SCV004107067 uncertain significance IFIH1-related condition 2022-08-30 criteria provided, single submitter clinical testing The IFIH1 c.1166G>A variant is predicted to result in the amino acid substitution p.Gly389Glu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0016% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-163139016-C-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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