Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000498607 | SCV000590481 | uncertain significance | not provided | 2017-06-15 | criteria provided, single submitter | clinical testing | The R178Q variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The R178Q variant is observed in 1/8492 (0.01%) alleles from individuals of East Asian background (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. However, this substitution occurs at a position that is not conserved, and in silico analysis predicts this variant likely does not alter the protein structure/function. |
Ambry Genetics | RCV002350111 | SCV002643260 | uncertain significance | Cardiovascular phenotype | 2023-02-27 | criteria provided, single submitter | clinical testing | The p.R178Q variant (also known as c.533G>A), located in coding exon 4 of the LDB3 gene, results from a G to A substitution at nucleotide position 533. The arginine at codon 178 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is poorly 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. |
Invitae | RCV002524095 | SCV003447780 | likely benign | Myofibrillar myopathy 4 | 2023-03-14 | criteria provided, single submitter | clinical testing |