Submissions for variant NM_022168.4(IFIH1):c.2863C>G (p.Gln955Glu)

gnomAD frequency: 0.00113  dbSNP: rs144455277

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000875928	SCV001018417	likely benign	Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7	2024-01-29	criteria provided, single submitter	clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	RCV000875928	SCV001468487	uncertain significance	Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7	2020-08-12	criteria provided, single submitter	clinical testing	IFIH1 NM_022168.3 exon 15 p.Gln955Glu (c.2863C>G): This variant has not been reported in the literature but is present in 0.7% (82/10370) of Ashkenazi Jewish alleles, including 1 homozygote, in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/2-163124024-G-C?dataset=gnomad_r2_1). This variant is present in ClinVar (Variation ID:705603). This variant amino acid Glutamic Acid (Glu) is present in several species and is not well conserved among evolutionarily distant species; this suggests that this variant may not impact the protein. Additional computational prediction tools do not suggest an impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	RCV003224484	SCV003920038	uncertain significance	Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7; Immunodeficiency 95	2021-03-30	criteria provided, single submitter	clinical testing	IFIH1 NM_022168.3 exon 15 p.Gln955Glu (c.2863C>G): This variant has not been reported in the literature but is present in 0.7% (82/10370) of Ashkenazi Jewish alleles, including 1 homozygote, in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/2-163124024-G-C?dataset=gnomad_r2_1). This variant is present in ClinVar (Variation ID:705603). This variant amino acid Glutamic Acid (Glu) is present in several species and is not well conserved among evolutionarily distant species; this suggests that this variant may not impact the protein. Additional computational prediction tools do not suggest an impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
CeGaT Center for Human Genetics Tuebingen	RCV001573673	SCV004147073	likely benign	not provided	2023-05-01	criteria provided, single submitter	clinical testing	IFIH1: BP4
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001573673	SCV001799900	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001573673	SCV001932342	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001573673	SCV001974025	likely benign	not provided		no assertion criteria provided	clinical testing