ClinVar Miner

Submissions for variant NM_022168.4(IFIH1):c.1152G>A (p.Trp384Ter)

gnomAD frequency: 0.00002  dbSNP: rs199917968
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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 RCV001306844 SCV001496228 likely benign Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 2024-01-11 criteria provided, single submitter clinical testing
GeneDx RCV004727115 SCV005333574 uncertain significance not provided 2023-05-15 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); 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

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