Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000616635 | SCV000731546 | uncertain significance | not specified | 2017-03-28 | criteria provided, single submitter | clinical testing | The p.Glu851Lys variant in CDH23 has not been previously reported in individuals with hearing loss, but has been identified in 5/11572 Latino chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs771 795434). Computational prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. In summary, the clinica l significance of the p.Glu851Lys variant is uncertain. |
Genome- |
RCV001559305 | SCV001781500 | uncertain significance | Autosomal recessive nonsyndromic hearing loss 12 | 2021-07-14 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001559306 | SCV001781501 | uncertain significance | Usher syndrome type 1D | 2021-07-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002528776 | SCV003305502 | uncertain significance | not provided | 2022-06-13 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 851 of the CDH23 protein (p.Glu851Lys). This variant is present in population databases (rs771795434, gnomAD 0.02%). 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: 517319). 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 C55"). 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, |
RCV001834953 | SCV002085683 | uncertain significance | Usher syndrome type 1 | 2019-10-28 | no assertion criteria provided | clinical testing |