Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV000505942 | SCV000605550 | uncertain significance | not provided | 2017-05-19 | criteria provided, single submitter | clinical testing | The p.Met4091Ile variant (rs751834009) has not been reported in the medical literature nor has it been previously identified in our laboratory. It is listed in the Genome Aggregation Database (gnomAD) browser with an overall frequency of 0.001% (identified in 4 out of 276,746 chromosomes). The methionine at codon 4091 is weakly conserved considering 12 species (Alamut software v2.9), and computational analyses suggest this variant does not have a significant effect on USH2A protein structure/function (SIFT: tolerated, PolyPhen2: benign, and Mutation Taster: polymorphism). However, based on the available information, the clinical significance of the p.Met4091Ile variant cannot be determined with certainty. |
Natera, |
RCV001834643 | SCV002088314 | uncertain significance | Usher syndrome type 2A | 2019-11-11 | no assertion criteria provided | clinical testing |