ClinVar Miner

Submissions for variant NM_022168.4(IFIH1):c.2733T>C (p.Ser911=)

gnomAD frequency: 0.00001  dbSNP: rs767453829
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Total submissions: 3
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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 RCV000768234 SCV000898742 uncertain significance Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 2018-05-18 criteria provided, single submitter clinical testing IFIH1 NM_022168.3 exon 14 p.Ser911= (c.2733T>C): This variant has not been reported in the literature but is present in 1/33504 Latino alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs767453829). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. Of note, this variant is a silent variant and does not change the amino acid, reducing the probability that this variant is disease causing. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Invitae RCV000768234 SCV002322681 likely benign Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 2022-06-23 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV003224442 SCV003920039 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 14 p.Ser911= (c.2733T>C): This variant has not been reported in the literature but is present in 1/33504 Latino alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs767453829). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. Of note, this variant is a silent variant and does not change the amino acid, reducing the probability that this variant is disease causing. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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