ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.10238G>A (p.Arg3413His)

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Total submissions: 2
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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 RCV002468849 SCV002765025 uncertain significance Intellectual disability, autosomal dominant 13 2022-12-09 criteria provided, single submitter clinical testing _x000D_ Criteria applied: PM2_SUP, PP2, PP3
Labcorp Genetics (formerly Invitae), Labcorp RCV003528403 SCV004267867 uncertain significance Charcot-Marie-Tooth disease axonal type 2O 2024-01-28 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 3413 of the DYNC1H1 protein (p.Arg3413His). This variant is present in population databases (rs776130043, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with DYNC1H1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1804111). 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 with a positive predictive value of 95%. 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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