Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000489371 | SCV000577106 | uncertain significance | not provided | 2017-04-11 | criteria provided, single submitter | clinical testing | The K1255M variant in the CDH23 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The K1255M variant is observed in 19/16366 (0.11%) alleles from individuals of South Asian background in the ExAC dataset (Lek et al., 2016). The K1255M 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. This substitution occurs at a position that is conserved across species. However, in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret K1255M as a variant of uncertain significance. |
Invitae | RCV000489371 | SCV001209667 | likely benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001272565 | SCV001454657 | uncertain significance | Usher syndrome type 1 | 2019-10-28 | no assertion criteria provided | clinical testing |