ClinVar Miner

Submissions for variant NM_022168.4(IFIH1):c.1121G>A (p.Arg374His)

gnomAD frequency: 0.00041  dbSNP: rs145520044
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000487851 SCV000575235 likely benign not provided 2024-05-01 criteria provided, single submitter clinical testing IFIH1: BP4
Invitae RCV001085647 SCV000773984 likely benign Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 2024-02-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003942603 SCV004760199 likely benign IFIH1-related disorder 2022-02-09 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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