ClinVar Miner

Submissions for variant NM_022168.4(IFIH1):c.919C>T (p.Gln307Ter)

gnomAD frequency: 0.00001  dbSNP: rs762821474
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001245850 SCV001419169 benign Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 2023-10-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002069312 SCV002496522 uncertain significance not provided 2022-03-01 criteria provided, single submitter clinical testing IFIH1: PM2, PP4
PreventionGenetics, part of Exact Sciences RCV003953602 SCV004773170 uncertain significance IFIH1-related disorder 2023-10-28 criteria provided, single submitter clinical testing The IFIH1 c.919C>T variant is predicted to result in premature protein termination (p.Gln307*). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.00088% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-163144821-G-A). 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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