ClinVar Miner

Submissions for variant NM_022168.4(IFIH1):c.1157G>A (p.Arg386His)

gnomAD frequency: 0.00004  dbSNP: rs138611889
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001253718 SCV001429570 uncertain significance Aicardi-Goutieres syndrome 7 2017-11-02 criteria provided, single submitter clinical testing
Invitae RCV001344499 SCV001538558 likely benign Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 2024-01-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002570537 SCV003694536 uncertain significance Inborn genetic diseases 2022-07-29 criteria provided, single submitter clinical testing The c.1157G>A (p.R386H) alteration is located in exon 6 (coding exon 6) of the IFIH1 gene. This alteration results from a G to A substitution at nucleotide position 1157, causing the arginine (R) at amino acid position 386 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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