Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000460526 | SCV000548949 | likely benign | Adams-Oliver syndrome 5 | 2023-10-18 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000825645 | SCV000967015 | uncertain significance | not specified | 2017-08-29 | criteria provided, single submitter | clinical testing | The p.Arg1627His (NM_017617.3 c.4880G>A) variant in NOTCH1 has not been previous ly reported in individuals with congenital heart disease. This variant has been identified in 1/12274 of East Asian chromosomes by the Genome Aggregation Databa se (gnomAD, http://gnomAD.broadinstitute.org; dbSNP rs946083212). Computational prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. In summary, the clinical significance of the p .Arg1627 variant is uncertain. |
Genome- |
RCV000460526 | SCV002553386 | uncertain significance | Adams-Oliver syndrome 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002270504 | SCV002553387 | uncertain significance | Aortic valve disease 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002339159 | SCV002634984 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2021-09-24 | criteria provided, single submitter | clinical testing | The p.R1627H variant (also known as c.4880G>A), located in coding exon 26 of the NOTCH1 gene, results from a G to A substitution at nucleotide position 4880. The arginine at codon 1627 is replaced by histidine, an amino acid with highly similar properties. This alteration has been reported in a newborn screening cohort (Ceyhan-Birsoy O et al. Am J Hum Genet, 2019 01;104:76-93). This amino acid position is not well conserved in available 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. |