Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000793147 | SCV000932488 | uncertain significance | not provided | 2018-11-07 | criteria provided, single submitter | clinical testing | 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with ELP1-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with proline at codon 669 of the ELP1 protein (p.Ser669Pro). The serine residue is moderately conserved and there is a moderate physicochemical difference between serine and proline. |
Natera, |
RCV001830694 | SCV002082100 | uncertain significance | Familial dysautonomia | 2021-08-16 | no assertion criteria provided | clinical testing |