ClinVar Miner

Submissions for variant NM_022168.4(IFIH1):c.1134A>T (p.Gln378His)

gnomAD frequency: 0.00005  dbSNP: rs750443621
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001297228 SCV001486235 likely benign Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 2023-12-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002538485 SCV003717988 uncertain significance Inborn genetic diseases 2022-07-21 criteria provided, single submitter clinical testing The c.1134A>T (p.Q378H) alteration is located in exon 6 (coding exon 6) of the IFIH1 gene. This alteration results from a A to T substitution at nucleotide position 1134, causing the glutamine (Q) at amino acid position 378 to be replaced by a histidine (H). The p.Q378H alteration is predicted to be tolerated by in silico analysis. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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