Table 2 Identified CDH23 variant and in silico molecular genetic analysis
Gene name | Transcript accession number | cDNA change | Protein change | Position (GRCh38/hg18) | REVEL | MutationTaster | SIFT | Polyphen 2 | ACMG Classification |
|---|---|---|---|---|---|---|---|---|---|
CDH23 | NM_0221 24;exon52 | c.7630T > G | p.Leu2544Val | chr10:71803045 | Benign (0.025) | Disease causing (0.999999989) | Benign (0.393) | Benign (0.002) | Uncertain Significance (PM2 + BP4 + BS4) |
CDH23 | NM_0221 24;exon56 | c.8257G > A | p.Ala2753Thr | chr10:71807355 | Benign (0.363) | Disease causing (0.999999778) | Benign (0.01) | Benign (0.032) | Uncertain Significance (PM2 + BP4 + BS4) |