Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000649553 | SCV000771382 | likely benign | Charcot-Marie-Tooth disease axonal type 2O | 2023-10-18 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002358867 | SCV002624942 | uncertain significance | Inborn genetic diseases | 2022-07-22 | criteria provided, single submitter | clinical testing | The p.V124M variant (also known as c.370G>A), located in coding exon 3 of the DYNC1H1 gene, results from a G to A substitution at nucleotide position 370. The valine at codon 124 is replaced by methionine, an amino acid with highly similar properties. This amino acid position is 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. |