Submissions for variant NM_022168.4(IFIH1):c.1222G>A (p.Asp408Asn)

gnomAD frequency: 0.00005  dbSNP: rs148540097

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001046941	SCV001210867	uncertain significance	Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7	2024-01-19	criteria provided, single submitter	clinical testing	This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 408 of the IFIH1 protein (p.Asp408Asn). This variant is present in population databases (rs148540097, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with IFIH1-related conditions. ClinVar contains an entry for this variant (Variation ID: 844159). Advanced modeling performed at Invitae incorporating data from internal and/or published experimental studies (Invitae) did not meet the statistical confidence thresholds required to predict the impact of this variant on IFIH1 function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
CeGaT Center for Human Genetics Tuebingen	RCV002275188	SCV002563603	uncertain significance	not provided	2022-07-01	criteria provided, single submitter	clinical testing	IFIH1: PM2
Revvity Omics, Revvity	RCV002275188	SCV003810011	uncertain significance	not provided	2020-12-17	criteria provided, single submitter	clinical testing
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden	RCV002275188	SCV004026284	uncertain significance	not provided	2023-03-14	criteria provided, single submitter	clinical testing