ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.10031G>A (p.Arg3344Gln)

dbSNP: rs397509412
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center 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, University of Leipzig Medical Center RCV001262933 SCV001440990 pathogenic Charcot-Marie-Tooth disease axonal type 2O 2019-01-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp 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, University of Washington RCV001291070 SCV001479433 likely pathogenic Lissencephaly no assertion criteria provided research
Inherited Neuropathy Consortium Ii, University Of Miami RCV001262933 SCV004174806 uncertain significance Charcot-Marie-Tooth disease axonal type 2O 2016-01-06 no assertion criteria provided literature only

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