Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001857882 | SCV002165152 | uncertain significance | Jeune thoracic dystrophy | 2022-04-09 | criteria provided, single submitter | clinical testing | This sequence change replaces asparagine, which is neutral and polar, with lysine, which is basic and polar, at codon 2160 of the DYNC2H1 protein (p.Asn2160Lys). This variant is present in population databases (rs775426647, gnomAD 0.008%). This missense change has been observed in individual(s) with DYNC2H1-related conditions (PMID: 29068549). ClinVar contains an entry for this variant (Variation ID: 446572). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15"). 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. |
Greenwood Genetic Center Diagnostic Laboratories, |
RCV001291047 | SCV002568309 | likely pathogenic | Asphyxiating thoracic dystrophy 3 | 2022-04-27 | criteria provided, single submitter | clinical testing | PM1, PM2, PM3 |
Dan Cohn Lab, |
RCV001291047 | SCV000611961 | pathogenic | Asphyxiating thoracic dystrophy 3 | 2017-06-01 | no assertion criteria provided | research | |
University of Washington Center for Mendelian Genomics, |
RCV001291047 | SCV001479387 | likely pathogenic | Asphyxiating thoracic dystrophy 3 | no assertion criteria provided | research |