Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000480411 | SCV000574072 | uncertain significance | not provided | 2017-03-15 | criteria provided, single submitter | clinical testing | The M23I variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. Although the M23I variant was not observed in large population cohorts, the data was noted to have reduced depth of sequencing reads and therefore may be unreliable (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The M23I variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is conserved across species, and in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. In summary, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant. |