Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV001002459 | SCV001160402 | uncertain significance | Ehlers-Danlos syndrome, classic type, 2 | 2019-04-07 | criteria provided, single submitter | clinical testing | The COL5A2c.2831G>A; p.Arg944His variant (rs761988412), to our knowledge, is not reported in the medical literature or gene specific databases. This variant is only observed on one allele in the Genome Aggregation Database, indicating it is not a common polymorphism. The arginine at codon 944 is highly 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.Arg944His variant is uncertain at this time. |
Gene |
RCV001585909 | SCV001820043 | uncertain significance | not provided | 2023-06-09 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge |
Invitae | RCV002549179 | SCV003450104 | likely benign | Ehlers-Danlos syndrome, classic type, 1 | 2023-10-14 | criteria provided, single submitter | clinical testing |