ClinVar Miner

Submissions for variant NM_022168.4(IFIH1):c.485C>A (p.Ser162Ter)

gnomAD frequency: 0.00001  dbSNP: rs1455983191
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002016085 SCV002299443 uncertain significance Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 2022-11-29 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.008%). 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. ClinVar contains an entry for this variant (Variation ID: 1508411). This variant has not been reported in the literature in individuals affected with IFIH1-related conditions. This sequence change creates a premature translational stop signal (p.Ser162*) in the IFIH1 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in IFIH1 cause disease.

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