Submissions for variant NM_022168.4(IFIH1):c.1787_1797del (p.Lys596fs)

gnomAD frequency: 0.00005  dbSNP: rs766039450

Total submissions: 4

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	RCV000768232	SCV000898740	uncertain significance	Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7	2018-10-29	criteria provided, single submitter	clinical testing	IFIH1 NM_022168.3 exon 10 p.Lys596Metfs*10 (c.1787_1797del): This variant has not been reported in the literature but is present in 0.008% (11/127154) of European alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/variant/2-163134171-AAACACGTTCTT-A). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. This variant is a deletion of 11 nucleotides and creates a premature stop codon 10 amino acids downstream from this location which results in an absent or abnormal protein. However, there is insufficient evidence to establish loss of function (LOF) as a known mechanism of disease for this gene. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Invitae	RCV000768232	SCV002198737	benign	Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7	2023-08-17	criteria provided, single submitter	clinical testing
AiLife Diagnostics, AiLife Diagnostics	RCV002223928	SCV002502255	likely pathogenic	not provided	2022-03-16	criteria provided, single submitter	clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	RCV003227854	SCV003924208	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 10 p.Lys596Metfs*10 (c.1787_1797del): This variant has not been reported in the literature but is present in 0.008% (11/127154) of European alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/variant/2-163134171-AAACACGTTCTT-A). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. This variant is a deletion of 11 nucleotides and creates a premature stop codon 10 amino acids downstream from this location which results in an absent or abnormal protein. However, there is insufficient evidence to establish loss of function (LOF) as a known mechanism of disease for this gene. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.