Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000227496 | SCV000290299 | benign | Adams-Oliver syndrome 5 | 2022-12-06 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002313955 | SCV000739429 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2016-06-03 | criteria provided, single submitter | clinical testing | The p.S2198L variant (also known as c.6593C>T), located in coding exon 34 of the NOTCH1 gene, results from a C to T substitution at nucleotide position 6593. The serine at codon 2198 is replaced by leucine, an amino acid with dissimilar properties. Based on data from ExAC, the T allele has an overall frequency of less than 0.01% (1/105105). 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 6467 samples (12934 alleles) with coverage at this position. 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. |
Genome- |
RCV000227496 | SCV002553291 | uncertain significance | Adams-Oliver syndrome 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002270058 | SCV002553293 | uncertain significance | Aortic valve disease 1 | 2022-03-15 | criteria provided, single submitter | clinical testing |