ClinVar Miner

Submissions for variant NM_022168.4(IFIH1):c.2090A>G (p.Glu697Gly)

gnomAD frequency: 0.00001  dbSNP: rs775545790
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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 RCV001877250 SCV002128625 uncertain significance Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 2024-02-24 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 697 of the IFIH1 protein (p.Glu697Gly). This variant is present in population databases (rs775545790, gnomAD 0.01%). 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: 1370603). 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 95%. 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.
Ambry Genetics RCV004988831 SCV005600410 uncertain significance Inborn genetic diseases 2024-10-21 criteria provided, single submitter clinical testing The c.2090A>G (p.E697G) alteration is located in exon 11 (coding exon 11) of the IFIH1 gene. This alteration results from a A to G substitution at nucleotide position 2090, causing the glutamic acid (E) at amino acid position 697 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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