Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002318333 | SCV000851729 | uncertain significance | Inborn genetic diseases | 2017-05-26 | criteria provided, single submitter | clinical testing | The p.R440G variant (also known as c.1318A>G), located in coding exon 7 of the DYNC1H1 gene, results from an A to G substitution at nucleotide position 1318. The arginine at codon 440 is replaced by glycine, an amino acid with dissimilar 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. |