Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000481463 | SCV000574318 | uncertain significance | not provided | 2017-03-21 | criteria provided, single submitter | clinical testing | The M1544I variant has not beenpublished as pathogenic or been reported as benign to our knowledge. It is not observed in large population cohorts(Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The M1544I variant is aconservative amino acid substitution, which is not likely to impact secondary protein structure as these residues sharesimilar properties. However, this substitution occurs at a position that is conserved across species, and two of three insilico models predict this variant is damaging to the protein structure/function. Nonetheless, this variant lacksobservation in a significant number of affected individuals, segregation data, and functional evidence, all of whichwould further clarify pathogenicity. |
Blueprint Genetics | RCV000481463 | SCV000927531 | uncertain significance | not provided | 2018-02-14 | criteria provided, single submitter | clinical testing |