ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.10016G>A (p.Arg3339His)

dbSNP: rs2152591288
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV001726716 SCV001961039 likely pathogenic Intellectual disability, autosomal dominant 13 2021-09-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001815623 SCV002063387 likely pathogenic not provided 2021-12-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001882790 SCV002210260 pathogenic Charcot-Marie-Tooth disease axonal type 2O 2023-01-04 criteria provided, single submitter clinical testing This missense change has been observed in individual(s) with clinical features of DYNC1H1-related intellectual disability (Invitae). In at least one individual the variant was observed to be de novo. 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: 1298386). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 3339 of the DYNC1H1 protein (p.Arg3339His).
GeneDx RCV001815623 SCV004023912 pathogenic not provided 2023-06-21 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; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 25512093, 26100331, 25609763)

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