Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV001138543 | SCV001298604 | uncertain significance | Isolated Nonsyndromic Congenital Heart Disease | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Ambry Genetics | RCV002436720 | SCV002748027 | uncertain significance | Cardiovascular phenotype | 2021-11-19 | criteria provided, single submitter | clinical testing | The p.E1003Q variant (also known as c.3007G>C), located in coding exon 24 of the JAG1 gene, results from a G to C substitution at nucleotide position 3007. The glutamic acid at codon 1003 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is conserved. 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. |