ClinVar Miner

Submissions for variant NM_022168.4(IFIH1):c.2392A>G (p.Ile798Val)

gnomAD frequency: 0.00031  dbSNP: rs758387388
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001067460 SCV001232525 benign Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 2023-06-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003396714 SCV004118815 uncertain significance IFIH1-related disorder 2023-10-04 criteria provided, single submitter clinical testing The IFIH1 c.2392A>G variant is predicted to result in the amino acid substitution p.Ile798Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0079% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-163130367-T-C). 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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