Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002318237 | SCV000851519 | uncertain significance | Inborn genetic diseases | 2017-07-05 | criteria provided, single submitter | clinical testing | The p.A763V variant (also known as c.2288C>T), located in coding exon 8 of the DYNC1H1 gene, results from a C to T substitution at nucleotide position 2288. The alanine at codon 763 is replaced by valine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Invitae | RCV000810070 | SCV000950257 | likely benign | Charcot-Marie-Tooth disease axonal type 2O | 2022-08-23 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001772019 | SCV001994167 | uncertain significance | not provided | 2019-07-11 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |