Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV001002145 | SCV001160000 | uncertain significance | Polycystic kidney disease, adult type | 2018-09-25 | criteria provided, single submitter | clinical testing | The PKD1 c.2462T>C; p.Val821Ala variant (rs766549097), to our knowledge, is not reported in the medical literature or gene specific databases. This variant is found on five chromosomes in the Genome Aggregation Database, indicating it is not a common polymorphism. The valine at codon 821 is moderately conserved, but computational analyses (SIFT: damaging, PolyPhen-2: benign) predict conflicting effects of this variant on protein structure/function. Due to limited information, the clinical significance of the p.Val821Ala variant is uncertain at this time. |
Fulgent Genetics, |
RCV001002145 | SCV002792774 | uncertain significance | Polycystic kidney disease, adult type | 2022-05-05 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003322837 | SCV004028269 | uncertain significance | not provided | 2023-02-16 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |