ClinVar Miner

Submissions for variant NM_022168.4(IFIH1):c.3055del (p.Cys1019fs)

gnomAD frequency: 0.00003  dbSNP: rs1392296770
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001038091 SCV001201538 uncertain significance Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 2023-03-02 criteria provided, single submitter clinical testing This sequence change results in a frameshift in the IFIH1 gene (p.Cys1019Valfs*10). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 7 amino acid(s) of the IFIH1 protein and extend the protein by 2 additional amino acid residues. This variant is present in population databases (no rsID available, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with IFIH1-related conditions. ClinVar contains an entry for this variant (Variation ID: 836873). 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.

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