Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000502315 | SCV000594435 | likely benign | not specified | 2016-08-12 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001222150 | SCV001394237 | likely benign | Charcot-Marie-Tooth disease axonal type 2O | 2023-07-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002383966 | SCV002697245 | uncertain significance | Inborn genetic diseases | 2018-11-27 | criteria provided, single submitter | clinical testing | The p.A4584T variant (also known as c.13750G>A), located in coding exon 77 of the DYNC1H1 gene, results from a G to A substitution at nucleotide position 13750. The alanine at codon 4584 is replaced by threonine, an amino acid with similar properties. This amino acid position is poorly 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. |