Submissions for variant NM_022168.4(IFIH1):c.478A>G (p.Asn160Asp)

gnomAD frequency: 0.00079  dbSNP: rs74162075

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	RCV000767991	SCV000898746	uncertain significance	Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7	2021-06-14	criteria provided, single submitter	clinical testing	IFIH1 NM_022168.3 exon 2 p.Asn160Asp (c.478A>G):This variant has not been reported in the literature but is present in 0.1% (92/67994) of European alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/2-162310909-T-C?dataset=gnomad_r3). This variant is present in ClinVar (Variation ID:625959). Evolutionary conservation suggests that this variant may impact the protein; computational prediction tools are unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Invitae	RCV000767991	SCV001016719	likely benign	Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7	2024-01-24	criteria provided, single submitter	clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	RCV003224409	SCV003920045	uncertain significance	Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7; Immunodeficiency 95	2021-03-30	criteria provided, single submitter	clinical testing	IFIH1 NM_022168 exon 2 p.Asn160Asp (c.478A>G): This variant has not been reported in the literature but is present in 0.1% (160/126122) of European alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs74162075). 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.
Mayo Clinic Laboratories, Mayo Clinic	RCV001796206	SCV004224974	uncertain significance	not provided	2023-06-01	criteria provided, single submitter	clinical testing	BP4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001796206	SCV002034959	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001796206	SCV002038007	likely benign	not provided		no assertion criteria provided	clinical testing