ClinVar Miner

Submissions for variant NM_022168.4(IFIH1):c.1191A>G (p.Lys397=)

dbSNP: rs1682828092
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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 RCV001888082 SCV002125516 uncertain significance Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 2021-11-08 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with IFIH1-related conditions. This sequence change affects codon 397 of the IFIH1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the IFIH1 protein.

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