ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.489del (p.Gly165fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003474514 SCV004212303 likely pathogenic Pituitary adenoma 5, multiple types 2023-05-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003553984 SCV004305903 pathogenic not provided 2023-06-09 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with deafness (PMID: 31138263). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gly165Alafs*25) in the CDH23 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CDH23 are known to be pathogenic (PMID: 11138009, 21940737).

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