Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001219769 | SCV001391724 | uncertain significance | not provided | 2022-10-18 | criteria provided, single submitter | clinical testing | This sequence change replaces proline, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1746 of the PCDH15 protein (p.Pro1746Thr). This variant is present in population databases (rs762526774, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with PCDH15-related conditions. ClinVar contains an entry for this variant (Variation ID: 948502). 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: "Tolerated"; 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. |
| Otology & Neurotology- |
RCV001797161 | SCV001738473 | uncertain significance | Meniere disease | 2021-06-21 | criteria provided, single submitter | case-control | Digenic inheritance along with NM_000260.4:c.6626G>A(MYO7A) |
| Breakthrough Genomics, |
RCV001219769 | SCV005190760 | uncertain significance | not provided | criteria provided, single submitter | not provided | ||
| Natera, |
RCV001833909 | SCV002093512 | uncertain significance | Usher syndrome type 1F | 2020-02-26 | no assertion criteria provided | clinical testing |