Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation | RCV000058868 | SCV000090388 | likely pathogenic | Bardet-Biedl syndrome | 2023-06-02 | criteria provided, single submitter | research | |
Invitae | RCV003764740 | SCV004569658 | pathogenic | Bardet-Biedl syndrome 3; Retinitis pigmentosa 55 | 2023-09-19 | criteria provided, single submitter | clinical testing | This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 91 of the ARL6 protein (p.Ile91Thr). This variant is present in population databases (rs137854907, gnomAD 0.01%). This missense change has been observed in individual(s) with Bardet-Biedl syndrome (PMID: 24400638, 29806606). ClinVar contains an entry for this variant (Variation ID: 68064). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. For these reasons, this variant has been classified as Pathogenic. |