Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001871557 | SCV002127305 | uncertain significance | not provided | 2022-08-08 | criteria provided, single submitter | clinical testing | This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 2929 of the CDH23 protein (p.Val2929Met). This variant is present in population databases (rs781604742, 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: 990958). 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. |
Ambry Genetics | RCV002541700 | SCV003725306 | uncertain significance | Inborn genetic diseases | 2022-04-25 | criteria provided, single submitter | clinical testing | The c.8785G>A (p.V2929M) alteration is located in exon 61 (coding exon 60) of the CDH23 gene. This alteration results from a G to A substitution at nucleotide position 8785, causing the valine (V) at amino acid position 2929 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Natera, |
RCV001279078 | SCV001466139 | uncertain significance | Usher syndrome type 1 | 2020-04-17 | no assertion criteria provided | clinical testing |