Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001321884 | SCV001512735 | uncertain significance | Peroxisome biogenesis disorder | 2021-09-01 | criteria provided, single submitter | clinical testing | This sequence change replaces leucine with valine at codon 166 of the PEX6 protein (p.Leu166Val). The leucine residue is weakly conserved and there is a small physicochemical difference between leucine and valine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has not been reported in the literature in individuals affected with PEX6-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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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. |
Breakthrough Genomics, |
RCV004692493 | SCV005188986 | uncertain significance | not provided | criteria provided, single submitter | not provided |