Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV000757648 | SCV000885948 | uncertain significance | not provided | 2017-11-28 | criteria provided, single submitter | clinical testing | The PKD1 c.8194C>T, p.Arg2732Trp variant (rs751031560) has not been reported in the medical literature, nor listed in gene-specific variant databases. It is observed twice in the Genome Aggregation Database general population database (2/30230 alleles). The arginine at position 2732 is weakly conserved, but computational algorithms (Align GVGD: C0; Mutation Taster: polymorphism; PolyPhen-2: possibly damaging; SIFT: damaging) are inconclusive on the variant's impact on PKD1 protein structure or function. Due to the limited information regarding the p.Arg2732Trp variant, its clinical significance could not be determined with certainty. |
Fulgent Genetics, |
RCV002493383 | SCV002803947 | uncertain significance | Polycystic kidney disease, adult type | 2021-12-15 | criteria provided, single submitter | clinical testing |