ClinVar Miner

Submissions for variant NM_022168.4(IFIH1):c.2759T>C (p.Ile920Thr)

dbSNP: rs748895438
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill RCV001249830 SCV001423842 uncertain significance Aicardi-Goutieres syndrome 7 criteria provided, single submitter research The IFIH1 c.2759T>C missense variant changes a single, evolutionarily well-conserved amino acid in the protein coding region from an isoleucine to a threonine. This variant has not been reported in control population databases or patient databases.
Labcorp Genetics (formerly Invitae), Labcorp RCV001879765 SCV002278277 uncertain significance Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 2023-09-28 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 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. ClinVar contains an entry for this variant (Variation ID: 973334). This variant has not been reported in the literature in individuals affected with IFIH1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 920 of the IFIH1 protein (p.Ile920Thr).
Ambry Genetics RCV004035294 SCV004887726 uncertain significance Inborn genetic diseases 2023-12-16 criteria provided, single submitter clinical testing The c.2759T>C (p.I920T) alteration is located in exon 14 (coding exon 14) of the IFIH1 gene. This alteration results from a T to C substitution at nucleotide position 2759, causing the isoleucine (I) at amino acid position 920 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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