ClinVar Miner

Submissions for variant NM_017547.4(FOXRED1):c.50G>A (p.Arg17Gln)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002306039 SCV002599676 uncertain significance not provided 2022-11-02 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV002306039 SCV003287199 uncertain significance not provided 2021-12-18 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 17 of the FOXRED1 protein (p.Arg17Gln). This variant is present in population databases (rs148692707, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with FOXRED1-related conditions. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt FOXRED1 protein function. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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 RCV003098035 SCV003745467 uncertain significance Inborn genetic diseases 2021-09-27 criteria provided, single submitter clinical testing The c.50G>A (p.R17Q) alteration is located in exon 1 (coding exon 1) of the FOXRED1 gene. This alteration results from a G to A substitution at nucleotide position 50, causing the arginine (R) at amino acid position 17 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003138162 SCV003828336 uncertain significance Mitochondrial complex 1 deficiency, nuclear type 19 2022-12-07 criteria provided, single submitter clinical testing
Baylor Genetics RCV003138162 SCV003836314 uncertain significance Mitochondrial complex 1 deficiency, nuclear type 19 2022-06-14 criteria provided, single submitter clinical testing

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