ClinVar Miner

Submissions for variant NM_022168.4(IFIH1):c.643G>A (p.Val215Ile)

gnomAD frequency: 0.00001  dbSNP: rs930052265
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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 RCV001070431 SCV001235659 uncertain significance Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 2021-06-24 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with IFIH1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces valine with isoleucine at codon 215 of the IFIH1 protein (p.Val215Ile). The valine residue is weakly conserved and there is a small physicochemical difference between valine and isoleucine.

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