Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001035196 | SCV001198511 | uncertain significance | not provided | 2021-08-13 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine with threonine at codon 278 of the HOGA1 protein (p.Ala278Thr). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and threonine. This variant is present in population databases (rs748335042, ExAC 0.002%). This variant has not been reported in the literature in individuals affected with HOGA1-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 disruptive. 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, |
RCV001273021 | SCV001455551 | uncertain significance | Primary hyperoxaluria type 3 | 2020-09-16 | no assertion criteria provided | clinical testing |