ClinVar Miner

Submissions for variant NM_022168.4(IFIH1):c.2416C>T (p.Arg806Cys)

gnomAD frequency: 0.00001  dbSNP: rs144341455
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001213296 SCV001384922 likely benign Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 2023-12-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV004033884 SCV004887720 likely benign Inborn genetic diseases 2022-03-21 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV004746273 SCV005367058 uncertain significance IFIH1-related disorder 2024-04-10 no assertion criteria provided clinical testing The IFIH1 c.2416C>T variant is predicted to result in the amino acid substitution p.Arg806Cys. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.037% of alleles in individuals of South Asian descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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