ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.9617G>A (p.Arg3206His)

gnomAD frequency: 0.00034  dbSNP: rs374156784
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000150331 SCV000197430 uncertain significance not specified 2014-03-15 criteria provided, single submitter clinical testing The Arg3206His variant in CDH23 has not been previously reported in individuals with hearing loss, but has been identified in 0.1% (4/4142) of African American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/ EVS/; dbSNP rs374156784). Computational prediction tools and conservation analys es do not provide strong support for or against an impact to the protein. In sum mary, additional information is needed to determine the clinical significance of this variant.
Invitae RCV001067382 SCV001232441 likely benign not provided 2024-01-10 criteria provided, single submitter clinical testing
GeneDx RCV001067382 SCV002599697 uncertain significance not provided 2023-10-19 criteria provided, single submitter clinical testing Identified in a patient with retinal dystrophy who also had variants in the ABCA4 gene (PMID: 32090030); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: Li[article]2022, 32090030)
Natera, Inc. RCV001826807 SCV002095283 uncertain significance Usher syndrome type 1 2019-10-28 no assertion criteria provided clinical testing

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