Submissions for variant NM_022168.4(IFIH1):c.2362G>A (p.Ala788Thr)

gnomAD frequency: 0.00207  dbSNP: rs148369169

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001027787	SCV000773979	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	RCV001027787	SCV001190395	uncertain significance	Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7	2019-06-20	criteria provided, single submitter	clinical testing	IFIH1 NM_022168.3 exon 12 p.Ala788Thr (c.2362G>A): This variant has not been reported in the literature but is present in 0.6% (156/24918) of African alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/2-163130397-C-T). This variant is present in ClinVar (Variation ID:541788). Evolutionary conservation and computational predictive tools suggest that this variant may impact the protein. 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	RCV003224372	SCV003920041	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 12 p.Ala788Thr (c.2362G>A): This variant has not been reported in the literature but is present in 0.6% (156/24918) of African alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/2-163130397-C-T). This variant is present in ClinVar (Variation ID:541788). Evolutionary conservation and computational predictive tools suggest that this variant may impact the protein. 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	RCV003884695	SCV004700601	uncertain significance	not provided	2023-12-01	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003937979	SCV004756278	benign	IFIH1-related disorder	2024-06-22	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).