ClinVar Miner

Submissions for variant NM_022168.4(IFIH1):c.1960T>G (p.Cys654Gly)

gnomAD frequency: 0.00001  dbSNP: rs987124852
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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 RCV001969296 SCV002256677 likely benign Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 2022-09-08 criteria provided, single submitter clinical testing
GeneDx RCV003329427 SCV004036616 uncertain significance not provided 2023-03-24 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); 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

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