ClinVar Miner

Submissions for variant NM_014314.4(RIGI):c.2660T>C (p.Ile887Thr)

gnomAD frequency: 0.00001  dbSNP: rs1064795754
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000478708 SCV000571867 likely pathogenic not provided 2022-08-18 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV000478708 SCV002314433 uncertain significance not provided 2022-02-09 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 422399). This variant has not been reported in the literature in individuals affected with DDX58-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 887 of the DDX58 protein (p.Ile887Thr). 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: "Deleterious"; 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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