Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000634441 | SCV000755748 | likely benign | CHARGE association | 2023-12-27 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002311978 | SCV000847088 | uncertain significance | Inborn genetic diseases | 2016-07-06 | criteria provided, single submitter | clinical testing | The p.R947Q variant (also known as c.2840G>A), located in coding exon 10 of the CHD7 gene, results from a G to A substitution at nucleotide position 2840. The arginine at codon 947 is replaced by glutamine, an amino acid with highly similar properties. This alteration was detected in an individual undergoing CHD7 analysis; however, no phenotypic information was provided (Bartels CF et al. Genet Test Mol Biomarkers, 2010GTF;14:881-91). This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 5914 samples (11828 alleles) with coverage at this position. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Fulgent Genetics, |
RCV000766018 | SCV000897455 | uncertain significance | CHARGE association; Hypogonadotropic hypogonadism 5 with or without anosmia | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Center for Genomics, |
RCV000766018 | SCV000898601 | uncertain significance | CHARGE association; Hypogonadotropic hypogonadism 5 with or without anosmia | 2021-03-30 | criteria provided, single submitter | clinical testing | CHD7 NM_017780.3 exon11 p.Arg947Gln (c.2840G>A): This variant has been reported in the literature in 1 individual with a clinical suspicion of CHARGE syndrome (Bartels 2010 PMID:21158661). This variant is present in 0.02% (7/30590) of South Asian alleles including 1 homozygote in the Genome Aggregation Database (http://gnomad.broadinstitute.org/variant/8-61734587-G-A). This variant is present in ClinVar (Variation ID:529140). Evolutionary conservation and computational predictive tools suggest that this variant may impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain. |
Gene |
RCV001613417 | SCV001840128 | uncertain significance | not provided | 2021-01-25 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Previously reported as a variant of uncertain significance in a patient with CHARGE syndrome (Bartels et al., 2010); This variant is associated with the following publications: (PMID: 33206719, 22539353, 21158681) |