Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV001255327 | SCV001431713 | pathogenic | Intellectual disability | 2020-08-03 | criteria provided, single submitter | clinical testing | The variant c.10031G>A, p.(Arg3344Gln) was identified in an individual with neurodevelopmental disorder (NDD) and classified as Pathogenic according to ACMG guidelines. Inheritance for this variant was not maternal.The variant likely explains the NDD in this individual. |
Institute of Human Genetics, |
RCV001262933 | SCV001440990 | pathogenic | Charcot-Marie-Tooth disease axonal type 2O | 2019-01-01 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001262933 | SCV002246042 | pathogenic | Charcot-Marie-Tooth disease axonal type 2O | 2022-10-31 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects DYNC1H1 function (PMID: 28196890). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on DYNC1H1 protein function. ClinVar contains an entry for this variant (Variation ID: 55855). This missense change has been observed in individual(s) with malformations of cortical development (PMID: 23603762). 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 3344 of the DYNC1H1 protein (p.Arg3344Gln). |
OMIM | RCV000049272 | SCV000077529 | pathogenic | Intellectual disability, autosomal dominant 13 | 2013-06-01 | no assertion criteria provided | literature only | |
University of Washington Center for Mendelian Genomics, |
RCV001291070 | SCV001479433 | likely pathogenic | Lissencephaly | no assertion criteria provided | research | ||
Inherited Neuropathy Consortium Ii, |
RCV001262933 | SCV004174806 | uncertain significance | Charcot-Marie-Tooth disease axonal type 2O | 2016-01-06 | no assertion criteria provided | literature only |