Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000481138 | SCV000573823 | pathogenic | not provided | 2022-03-14 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 26100331, 25609763, 25512093, 29671837, 31785789, 35099838, 28135719) |
Undiagnosed Diseases Network, |
RCV000626029 | SCV000746642 | likely pathogenic | Intellectual disability, autosomal dominant 13 | 2017-02-20 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002525958 | SCV003461882 | pathogenic | Charcot-Marie-Tooth disease axonal type 2O | 2023-06-29 | criteria provided, single submitter | clinical testing | Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt DYNC1H1 protein function. ClinVar contains an entry for this variant (Variation ID: 424046). This missense change has been observed in individual(s) with DYNC1H1-related conditions (PMID: 28135719, 29671837). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 1623 of the DYNC1H1 protein (p.Arg1623Gln). For these reasons, this variant has been classified as Pathogenic. |
Revvity Omics, |
RCV000481138 | SCV004238164 | likely pathogenic | not provided | 2023-11-16 | criteria provided, single submitter | clinical testing | |
University of Washington Center for Mendelian Genomics, |
RCV001291066 | SCV001479429 | likely pathogenic | Lissencephaly | no assertion criteria provided | research |