Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001549390 | SCV001769531 | uncertain significance | not provided | 2020-10-30 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function |
Prevention |
RCV004528511 | SCV004105525 | likely pathogenic | COL11A1-related disorder | 2023-08-04 | criteria provided, single submitter | clinical testing | The COL11A1 c.2522G>T variant is predicted to result in the amino acid substitution p.Gly841Val. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. This variant affects a Gly residue of the conserved Gly-Xaa-Yaa triple helical domain (amino acid residues 529-1542, www.uniprot.org/uniprotkb/P12107/), where substitutions of glycine are usually pathogenic (Richards et al. 2010. PubMed ID: 20513134; https://www.ncbi.nlm.nih.gov/books/NBK1302/). This variant is interpreted as likely pathogenic. |