Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000634439 | SCV000755746 | uncertain significance | CHARGE association | 2023-10-05 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 1330 of the CHD7 protein (p.Arg1330Trp). This variant is present in population databases (rs369542138, gnomAD 0.06%), and has an allele count higher than expected for a pathogenic variant. This variant has not been reported in the literature in individuals affected with CHD7-related conditions. ClinVar contains an entry for this variant (Variation ID: 529138). 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 disruptive. 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 | RCV002317385 | SCV000850852 | uncertain significance | Inborn genetic diseases | 2017-03-29 | criteria provided, single submitter | clinical testing | The p.R1330W variant (also known as c.3988C>T), located in coding exon 15 of the CHD7 gene, results from a C to T substitution at nucleotide position 3988. The arginine at codon 1330 is replaced by tryptophan, an amino acid with dissimilar 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. |
Mayo Clinic Laboratories, |
RCV001507734 | SCV001713464 | uncertain significance | not provided | 2020-09-01 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002477391 | SCV002780609 | uncertain significance | CHARGE association; Hypogonadotropic hypogonadism 5 with or without anosmia | 2022-03-24 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV001507734 | SCV003831976 | uncertain significance | not provided | 2022-06-20 | criteria provided, single submitter | clinical testing |