ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.9254del (p.Leu3085fs)

dbSNP: rs773926246
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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 RCV001380819 SCV001578999 pathogenic not provided 2021-12-07 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: 1069075). This variant has not been reported in the literature in individuals affected with CDH23-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Leu3085Profs*2) 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).
Fulgent Genetics, Fulgent Genetics RCV005040247 SCV005680339 likely pathogenic Autosomal recessive nonsyndromic hearing loss 12; Usher syndrome type 1D; Pituitary adenoma 5, multiple types 2024-05-09 criteria provided, single submitter clinical testing

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