Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000468014 | SCV000548956 | benign | Adams-Oliver syndrome 5 | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002313172 | SCV000739452 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2016-11-09 | criteria provided, single submitter | clinical testing | The p.A1458T variant (also known as c.4372G>A), located in coding exon 25 of the NOTCH1 gene, results from a G to A substitution at nucleotide position 4372. The alanine at codon 1458 is replaced by threonine, an amino acid with similar properties. This variant was previously reported in the SNPDatabase as rs200495793. Based on data from ExAC, the A allele has an overall frequency of <0.01% (7/103644). Based on data from the 1000 Genomes Project, the A allele has an overall frequency of approximately 0.05% (1/2098) total alleles studied. The highest observed frequency was 0.83% (1/120) Colombian alleles. Based on data from the NHLBI Exome Sequencing Project (ESP), the A allele has an overall frequency of approximately 0.01% (1/12676) total alleles studied and 0.01% (1/8440) European American alleles. This amino acid position is not well conserved in available vertebrate species, and threonine is the reference amino acid in other vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Gene |
RCV001557539 | SCV001779314 | uncertain significance | not provided | 2021-08-26 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function; Reported in ClinVar but additional evidence is not available (ClinVar Variant ID #409073; Landrum et al., 2016); This variant is associated with the following publications: (PMID: 26582918) |
Genome- |
RCV000468014 | SCV002553421 | uncertain significance | Adams-Oliver syndrome 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002270506 | SCV002553422 | uncertain significance | Aortic valve disease 1 | 2022-03-15 | criteria provided, single submitter | clinical testing |