Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001235036 | SCV001407700 | uncertain significance | Autosomal dominant polycystic kidney disease | 2024-01-26 | criteria provided, single submitter | clinical testing | This sequence change replaces aspartic acid, which is acidic and polar, with glutamic acid, which is acidic and polar, at codon 66 of the PKD2 protein (p.Asp66Glu). This variant is present in population databases (no rsID available, gnomAD 0.06%), and has an allele count higher than expected for a pathogenic variant. This variant has not been reported in the literature in individuals affected with PKD2-related conditions. ClinVar contains an entry for this variant (Variation ID: 961356). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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 | RCV004960605 | SCV005475918 | uncertain significance | Inborn genetic diseases | 2024-11-04 | criteria provided, single submitter | clinical testing | The c.198C>A (p.D66E) alteration is located in exon 1 (coding exon 1) of the PKD2 gene. This alteration results from a C to A substitution at nucleotide position 198, causing the aspartic acid (D) at amino acid position 66 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
| Fulgent Genetics, |
RCV005036513 | SCV005669973 | uncertain significance | Polycystic kidney disease 2 | 2024-02-29 | criteria provided, single submitter | clinical testing |