Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002050609 | SCV002113653 | uncertain significance | Joubert syndrome 14 | 2021-10-27 | criteria provided, single submitter | clinical testing | This sequence change replaces leucine, a(n) neutral and non-polar amino acid, with valine, a(n) neutral and non-polar amino acid, at codon 322 of the TMEM237 protein (p.Leu322Val). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with TMEM237-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. 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. |