Submissions for variant NM_022124.6(CDH23):c.5518C>T (p.Arg1840Trp)

gnomAD frequency: 0.00001  dbSNP: rs145951744

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000592800	SCV000705025	uncertain significance	not provided	2017-01-20	criteria provided, single submitter	clinical testing
Invitae	RCV000592800	SCV001380714	uncertain significance	not provided	2022-07-11	criteria provided, single submitter	clinical testing	This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 1840 of the CDH23 protein (p.Arg1840Trp). This variant is present in population databases (rs145951744, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with CDH23-related conditions. ClinVar contains an entry for this variant (Variation ID: 499509). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C65"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Clinical Genetics, Academic Medical Center	RCV000592800	SCV001920678	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000592800	SCV001965850	uncertain significance	not provided		no assertion criteria provided	clinical testing
Natera, Inc.	RCV001834891	SCV002089463	uncertain significance	Usher syndrome type 1	2020-03-04	no assertion criteria provided	clinical testing