Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002318335 | SCV000851733 | uncertain significance | Inborn genetic diseases | 2017-05-26 | criteria provided, single submitter | clinical testing | The p.T4369M variant (also known as c.13106C>T), located in coding exon 73 of the DYNC1H1 gene, results from a C to T substitution at nucleotide position 13106. The threonine at codon 4369 is replaced by methionine, an amino acid with 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. |
Gene |
RCV001772020 | SCV002003890 | uncertain significance | not provided | 2021-04-12 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Invitae | RCV003528222 | SCV004282097 | likely benign | Charcot-Marie-Tooth disease axonal type 2O | 2023-09-22 | criteria provided, single submitter | clinical testing |