ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.6319C>T (p.Arg2107Ter)

gnomAD frequency: 0.00001  dbSNP: rs1306728898
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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 RCV001243950 SCV001417142 pathogenic not provided 2022-06-22 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 968742). This variant is also known as R1305X. This premature translational stop signal has been observed in individuals with Usher syndrome (PMID: 11090341, 24618850). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg2107*) 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).
Baylor Genetics RCV003473825 SCV004212325 pathogenic Pituitary adenoma 5, multiple types 2023-02-25 criteria provided, single submitter clinical testing

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