ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.7274_7275del (p.Thr2425fs)

gnomAD frequency: 0.00001  dbSNP: rs1841497902
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001906967 SCV002181063 pathogenic not provided 2022-11-07 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Thr2425Serfs*3) 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). This variant has not been reported in the literature in individuals affected with CDH23-related conditions. For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1406663).
Baylor Genetics RCV004571584 SCV005060168 likely pathogenic Pituitary adenoma 5, multiple types 2024-03-02 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005042502 SCV005676970 likely pathogenic Autosomal recessive nonsyndromic hearing loss 12; Usher syndrome type 1D; Pituitary adenoma 5, multiple types 2024-04-16 criteria provided, single submitter clinical testing

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