ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.4282A>G (p.Ile1428Val)

dbSNP: rs747559330
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized 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).

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