ClinVar Miner

Submissions for variant NM_022168.4(IFIH1):c.1240G>C (p.Ala414Pro)

gnomAD frequency: 0.00001  dbSNP: rs201917037
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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 RCV001973344 SCV002250982 uncertain significance Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 2022-08-31 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 414 of the IFIH1 protein (p.Ala414Pro). This variant is present in population databases (rs201917037, gnomAD 0.06%). 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: 1470749). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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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