ClinVar Miner

Submissions for variant NM_022168.4(IFIH1):c.1738C>T (p.Gln580Ter)

dbSNP: rs774888783
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000714708 SCV000845433 pathogenic Aicardi-Goutieres syndrome 7 2018-08-07 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003133575 SCV003810007 uncertain significance not provided 2022-01-23 criteria provided, single submitter clinical testing
GeneDx RCV003133575 SCV003919310 uncertain significance not provided 2022-10-22 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene or region of a gene for which loss of function is not a well-established mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD)

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