Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000619498 | SCV000736099 | uncertain significance | Cardiovascular phenotype | 2017-11-13 | criteria provided, single submitter | clinical testing | The p.Q593H variant (also known as c.1779G>C), located in coding exon 10 of the LDB3 gene, results from a G to C substitution at nucleotide position 1779. The glutamine at codon 593 is replaced by histidine, an amino acid with highly 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. |
Gene |
RCV001770546 | SCV001993924 | uncertain significance | not provided | 2019-07-02 | criteria provided, single submitter | clinical testing | Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge |