Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000688035 | SCV000815631 | uncertain significance | Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71 | 2021-06-17 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (ExAC no frequency). 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 do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with IFT172-related disease. This sequence change replaces leucine with phenylalanine at codon 1687 of the IFT172 protein (p.Leu1687Phe). The leucine residue is moderately conserved and there is a small physicochemical difference between leucine and phenylalanine. |
Fulgent Genetics, |
RCV002485613 | SCV002785074 | uncertain significance | Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71; Bardet-Biedl syndrome 20 | 2022-01-04 | criteria provided, single submitter | clinical testing |