ClinVar Miner

Submissions for variant NM_022168.4(IFIH1):c.2665A>T (p.Lys889Ter)

dbSNP: rs1252022173
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001869858 SCV002234570 uncertain significance Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 2023-09-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys889*) 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. This variant is present in population databases (no rsID available, gnomAD 0.003%). 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: 1343097). 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.
OMIM RCV001843699 SCV002102821 pathogenic Immunodeficiency 95 2022-03-07 no assertion criteria provided literature only

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