ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.8803C>T (p.Arg2935Ter)

gnomAD frequency: 0.00001  dbSNP: rs1190307769
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000760396 SCV000890269 pathogenic not provided 2024-05-17 criteria provided, single submitter clinical testing Identified in patients with bilateral sensorineural hearing loss referred for genetic testing at GeneDx and in published literature; patients were younger than the expected age of onset for visual symptoms of Usher syndrome (PMID: 35020051); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 21689626, 11750125, 25211151, 35020051)
Blueprint Genetics RCV001075279 SCV001240894 pathogenic Retinal dystrophy 2017-09-26 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000760396 SCV002016988 pathogenic not provided 2021-06-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000760396 SCV002242999 pathogenic not provided 2023-10-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg2935*) 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). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This premature translational stop signal has been observed in individual(s) with Usher syndrome (PMID: 25211151). ClinVar contains an entry for this variant (Variation ID: 620124). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003472282 SCV004210638 pathogenic Pituitary adenoma 5, multiple types 2023-08-13 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276921 SCV001463578 pathogenic Usher syndrome type 1 2020-09-16 no assertion criteria provided clinical testing

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