Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000557195 | SCV000659392 | benign | Adams-Oliver syndrome 5 | 2024-01-11 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002315045 | SCV000739421 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2022-09-26 | criteria provided, single submitter | clinical testing | The p.R731W variant (also known as c.2191C>T), located in coding exon 13 of the NOTCH1 gene, results from a C to T substitution at nucleotide position 2191. The arginine at codon 731 is replaced by tryptophan, an amino acid with dissimilar properties. This variant was previously reported in the SNPDatabase as rs199666126. Based on data from ExAC, the T allele has an overall frequency of approximately 0.01% (4/29280). Based on data from the NHLBI Exome Sequencing Project (ESP), the T allele has an overall frequency of approximately 0.02% (3/12400) total alleles studied, having been observed in 0.07% (3/4064) African American alleles. This amino acid position is not well 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 variant remains unclear. |
Gene |
RCV001731786 | SCV001983137 | uncertain significance | not provided | 2023-03-30 | 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 has a deleterious effect on protein structure/function |
Genome- |
RCV000557195 | SCV002553576 | uncertain significance | Adams-Oliver syndrome 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002270680 | SCV002553577 | uncertain significance | Aortic valve disease 1 | 2022-03-15 | criteria provided, single submitter | clinical testing |