Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000150313 | SCV000197399 | likely benign | not specified | 2013-10-05 | criteria provided, single submitter | clinical testing | Ala2317Ser in Exon 50 of CDH23: This variant is not expected to have clinical si gnificance because it is not well conserved across species with platypus and sev eral distant species (birds, reptiles, and fish) having a Ser at that position. In addition, computational analyses (biochemical amino acid properties, AlignGVG D, PolyPhen2, and SIFT) predict that the Ala2317Ser variant may not impact the p rotein. |