Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Clinical Services Laboratory, |
RCV000283474 | SCV000417038 | uncertain significance | Nemaline Myopathy, Recessive | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000494281 | SCV000581729 | uncertain significance | not provided | 2017-04-19 | criteria provided, single submitter | clinical testing | The R633S variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The R633S variant is observed in 49/7604 (0.6%) alleles from individuals of East Asian background (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This substitution occurs at a position where amino acids with similar properties to Arginine are tolerated across species. However, this variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. |