ClinVar Miner

Submissions for variant NM_016222.4(DDX41):c.655C>T (p.Arg219Cys)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002662803 SCV002972092 uncertain significance not provided 2023-12-18 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 219 of the DDX41 protein (p.Arg219Cys). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with DDX41-related conditions. ClinVar contains an entry for this variant (Variation ID: 1938763). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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.
Ambry Genetics RCV002662804 SCV003731254 uncertain significance Inborn genetic diseases 2024-11-22 criteria provided, single submitter clinical testing The p.R219C variant (also known as c.655C>T), located in coding exon 8 of the DDX41 gene, results from a C to T substitution at nucleotide position 655. The arginine at codon 219 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.
GeneDx RCV002662803 SCV005387167 likely pathogenic not provided 2024-03-05 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; This variant is associated with the following publications: (PMID: 27721487)

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