Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000599770 | SCV000731738 | likely benign | not specified | 2017-06-22 | criteria provided, single submitter | clinical testing | p.Ile1428Val in exon 35 of CDH23: This variant is not expected to have clinical significance due to a lack of conservation across species, including mammals. Of note, >70 species have a valine (Val) at this position despite high nearby amin o acid conservation. In addition, computational prediction tools do not suggest a high likelihood of impact to the protein. This variant has also been identifie d in 1/111700 European chromosomes by the Genome Aggregation Database (gnomAD, h ttp://gnomad.broadinstitute.org; dbSNP rs747559330). |