ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.2206C>T (p.Arg736Ter)

dbSNP: rs1230303971
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001243157 SCV001416294 pathogenic not provided 2023-12-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg736*) 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 is present in population databases (no rsID available, gnomAD 0.002%). This premature translational stop signal has been observed in individual(s) with Usher syndrome (PMID: 17407589). ClinVar contains an entry for this variant (Variation ID: 693998). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003473524 SCV004210617 pathogenic Pituitary adenoma 5, multiple types 2023-09-17 criteria provided, single submitter clinical testing
Department of biochemistry and genetics, Arak University of Medical sciences RCV000855416 SCV000996525 pathogenic Usher syndrome type 1D 2019-10-24 no assertion criteria provided clinical testing We identified a mutation in c.2206C>T (NM_001171931.1), p.Arg736Ter (NP_071407.4) in the two homozygous brothers with hearing loss and RP.
Natera, Inc. RCV001825705 SCV002085550 pathogenic Usher syndrome type 1 2021-07-21 no assertion criteria provided clinical testing

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