Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000344404 | SCV000335686 | uncertain significance | not provided | 2015-10-12 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000803633 | SCV000943513 | uncertain significance | Jeune thoracic dystrophy | 2022-10-24 | criteria provided, single submitter | clinical testing | This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1825 of the DYNC2H1 protein (p.Ile1825Val). This variant is present in population databases (rs201860217, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with DYNC2H1-related conditions. ClinVar contains an entry for this variant (Variation ID: 283519). 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. 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. |
ARUP Laboratories, |
RCV001285728 | SCV001472207 | uncertain significance | Asphyxiating thoracic dystrophy 3 | 2019-10-30 | criteria provided, single submitter | clinical testing | The DYNC2H1 c.5473A>G; p.Ile1825Val variant (rs201860217), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 283519). This variant is found in the general population with an overall allele frequency of 0.02% (55/270634 alleles) in the Genome Aggregation Database. The isoleucine at codon 1825 is highly conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is deleterious. Due to limited information, the clinical significance of the p.Ile1825Val variant is uncertain at this time. |
Gene |
RCV000344404 | SCV002008264 | uncertain significance | not provided | 2019-08-14 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Baylor Genetics | RCV001285728 | SCV003835354 | uncertain significance | Asphyxiating thoracic dystrophy 3 | 2022-08-25 | criteria provided, single submitter | clinical testing |