ClinVar Miner

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

gnomAD frequency: 0.00003  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 variant has not been reported in the literature in individuals affected with IFIH1-related conditions. 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 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"). ClinVar contains an entry for this variant (Variation ID: 1470749). This variant is present in population databases (rs201917037, gnomAD 0.06%). 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).

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