Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000521289 | SCV000619469 | uncertain significance | not provided | 2017-07-24 | criteria provided, single submitter | clinical testing | A variant of uncertain significance has been identified in the MYLK gene. The P974R variant has not been published as pathogenic or been reported as benign to our knowledge. The P974R variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The P974R variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. However, this substitution occurs at a position that is not conserved and arginine (R) is the wild-type amino acid at this position in at least one species. Furthermore, in silico analysis predicts this variant likely does not alter the protein structure/function. |