Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002242417 | SCV001545051 | uncertain significance | Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1 | 2020-06-30 | criteria provided, single submitter | clinical testing | This sequence change replaces tyrosine with histidine at codon 1178 of the COL1A2 protein (p.Tyr1178His). The tyrosine residue is highly conserved and there is a moderate physicochemical difference between tyrosine and histidine. This variant is present in population databases (rs750815565, ExAC 0.001%). This variant has not been reported in the literature in individuals with COL1A2-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0"). 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. |
Genome Diagnostics Laboratory, |
RCV002276699 | SCV002565585 | uncertain significance | Ehlers-Danlos syndrome | 2021-11-24 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV003145605 | SCV003833437 | uncertain significance | not provided | 2021-06-30 | criteria provided, single submitter | clinical testing |