ClinVar Miner

Submissions for variant NM_022168.4(IFIH1):c.2321_2323delinsGTT (p.Val774_Ile775delinsGlyPhe)

dbSNP: rs2105193797
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001787578 SCV002031026 uncertain significance not provided 2023-05-03 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV002034635 SCV002303467 uncertain significance Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 2022-11-28 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 1327298). This variant has not been reported in the literature in individuals affected with IFIH1-related conditions. Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This variant, c.2321_2323delinsGTT, is a complex sequence change that results in the deletion of 2 and insertion of 2 amino acid(s) in the IFIH1 protein (p.Val774_Ile775delinsGlyPhe).

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