Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV000414777 | SCV000493024 | likely pathogenic | Global developmental delay; Seizure; Delayed speech and language development; Microcephaly; Delayed gross motor development | 2014-06-06 | criteria provided, single submitter | clinical testing | |
Centre for Mendelian Genomics, |
RCV001198404 | SCV001369331 | likely pathogenic | Charcot-Marie-Tooth disease axonal type 2O | 2016-01-01 | criteria provided, single submitter | clinical testing | This variant was classified as: Likely pathogenic. |
Ambry Genetics | RCV001267559 | SCV001445740 | pathogenic | Inborn genetic diseases | 2019-08-19 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001198404 | SCV003442718 | pathogenic | Charcot-Marie-Tooth disease axonal type 2O | 2022-09-03 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. 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: 374190). This missense change has been observed in individual(s) with autosomal dominant intellectual disability (PMID: 25590979, 27754416, 29286531). 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 cysteine, which is neutral and slightly polar, at codon 2332 of the DYNC1H1 protein (p.Arg2332Cys). |
Duke University Health System Sequencing Clinic, |
RCV003223402 | SCV003919013 | pathogenic | Intellectual disability, autosomal dominant 13 | 2023-04-20 | criteria provided, single submitter | research | |
Inherited Neuropathy Consortium Ii, |
RCV001198404 | SCV004174362 | uncertain significance | Charcot-Marie-Tooth disease axonal type 2O | 2016-01-06 | no assertion criteria provided | literature only |