ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.5873A>G (p.Asp1958Gly)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV002467416 SCV002762748 likely pathogenic Intellectual disability, autosomal dominant 13 2022-08-04 criteria provided, single submitter research ACMG codes:PS2_Strong, PM2_Moderate, PP2_Supporting, PP3_Supporting
Labcorp Genetics (formerly Invitae), Labcorp RCV002573596 SCV003328566 uncertain significance Charcot-Marie-Tooth disease axonal type 2O 2022-03-10 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 1958 of the DYNC1H1 protein (p.Asp1958Gly). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with DYNC1H1-related conditions. 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. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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