Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000685547 | SCV000813032 | benign | Charcot-Marie-Tooth disease axonal type 2O | 2023-06-27 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002386162 | SCV002689167 | uncertain significance | Inborn genetic diseases | 2019-10-28 | criteria provided, single submitter | clinical testing | The p.D4433N variant (also known as c.13297G>A), located in coding exon 74 of the DYNC1H1 gene, results from a G to A substitution at nucleotide position 13297. The aspartic acid at codon 4433 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is highly 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. |