Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000805100 | SCV000945044 | uncertain significance | not provided | 2021-08-28 | criteria provided, single submitter | clinical testing | This sequence change replaces serine with glycine at codon 210 of the ELP1 protein (p.Ser210Gly). The serine residue is highly conserved and there is a small physicochemical difference between serine and glycine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals affected with ELP1-related conditions. 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. 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. |
Natera, |
RCV001274638 | SCV001458974 | uncertain significance | Familial dysautonomia | 2020-09-16 | no assertion criteria provided | clinical testing |