Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Revvity Omics, |
RCV003134115 | SCV003812785 | uncertain significance | not provided | 2022-08-15 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV003592000 | SCV004285420 | uncertain significance | Brachyolmia-amelogenesis imperfecta syndrome | 2022-11-01 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with LTBP3-related conditions. 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. 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 1303 of the LTBP3 protein (p.Arg1303His). |