ClinVar Miner

Submissions for variant NM_022168.4(IFIH1):c.109T>C (p.Phe37Leu)

gnomAD frequency: 0.00001  dbSNP: rs888356659
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001298513 SCV001487572 uncertain significance Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 2020-02-06 criteria provided, single submitter clinical testing 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: "Possibly 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. 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 phenylalanine with leucine at codon 37 of the IFIH1 protein (p.Phe37Leu). The phenylalanine residue is moderately conserved and there is a small physicochemical difference between phenylalanine and leucine.
Baylor Genetics RCV001334145 SCV001526899 uncertain significance Aicardi-Goutieres syndrome 7 2018-03-13 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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