Submissions for variant NM_022124.6(CDH23):c.4519C>T (p.Arg1507Trp)

gnomAD frequency: 0.00001  dbSNP: rs760927863

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001700727	SCV003471588	uncertain significance	not provided	2022-07-19	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 1507 of the CDH23 protein (p.Arg1507Trp). This variant is present in population databases (rs760927863, gnomAD 0.008%). 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: 989833). 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 C0"). 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.
Natera, Inc.	RCV001277732	SCV001464701	uncertain significance	Usher syndrome type 1	2020-04-15	no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV001700727	SCV001918219	uncertain significance	not provided		no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001700727	SCV001963369	uncertain significance	not provided		no assertion criteria provided	clinical testing