Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002317604 | SCV000851177 | uncertain significance | Inborn genetic diseases | 2017-07-11 | criteria provided, single submitter | clinical testing | The p.E190K variant (also known as c.568G>A), located in coding exon 4 of the DYNC1H1 gene, results from a G to A substitution at nucleotide position 568. The glutamic acid at codon 190 is replaced by lysine, an amino acid with similar properties. This variant has been determined to be the result of a de novo mutation or germline mosaicism in one family with an isolated case of DYNC1H1-related neurological disorder. This amino acid position is highly 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 alteration remains unclear. |
New York Genome Center | RCV001281474 | SCV001468782 | uncertain significance | Seizure; Intellectual disability | 2019-07-17 | criteria provided, single submitter | clinical testing |