ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.9658del (p.Glu3220fs)

dbSNP: rs922700209
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001048037 SCV001212026 uncertain significance not provided 2019-12-28 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the CDH23 gene (p.Glu3220Argfs*28). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 135 amino acids of the CDH23 protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with CDH23-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Baylor Genetics RCV003473634 SCV004212370 pathogenic Pituitary adenoma 5, multiple types 2022-06-18 criteria provided, single submitter clinical testing

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