Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000472945 | SCV000552228 | uncertain significance | CHARGE association | 2022-08-09 | criteria provided, single submitter | clinical testing | 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. 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 expected to disrupt CHD7 protein function. ClinVar contains an entry for this variant (Variation ID: 411183). This missense change has been observed in individual(s) with CDH7-related conditions (PMID: 28191889, 31689711). This variant is present in population databases (rs372644599, gnomAD 0.007%). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 1820 of the CHD7 protein (p.Arg1820Gln). |
Gene |
RCV001584166 | SCV001818410 | uncertain significance | not provided | 2021-01-07 | criteria provided, single submitter | clinical testing | Observed in a patient with idiopathic hypogonadotropic hypogonadism in published literature; patient was also heterozygous for variants in other genes (Zhao et al., 2019; Li et al., 2020); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; In-silico analysis is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; This variant is associated with the following publications: (PMID: 31689711, 28191889, 30576231) |
Ambry Genetics | RCV002348330 | SCV002649121 | uncertain significance | Inborn genetic diseases | 2019-06-29 | criteria provided, single submitter | clinical testing | The p.R1820Q variant (also known as c.5459G>A), located in coding exon 25 of the CHD7 gene, results from a G to A substitution at nucleotide position 5459. The arginine at codon 1820 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Revvity Omics, |
RCV001584166 | SCV003831948 | uncertain significance | not provided | 2021-02-09 | criteria provided, single submitter | clinical testing |