ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.1834G>A (p.Val612Met)

dbSNP: rs1555408333
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001310722 SCV001500631 pathogenic not provided 2021-01-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003447245 SCV005836390 pathogenic Charcot-Marie-Tooth disease axonal type 2O 2024-08-22 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 612 of the DYNC1H1 protein (p.Val612Met). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with congenital myopathy and/or spinal muscular atrophy (PMID: 25609763, 31127727). ClinVar contains an entry for this variant (Variation ID: 637518). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt DYNC1H1 protein function with a positive predictive value of 95%. For these reasons, this variant has been classified as Pathogenic.
Inherited Neuropathy Consortium RCV000789737 SCV000929114 uncertain significance Neuronopathy, distal hereditary motor, autosomal dominant no assertion criteria provided literature only
Inherited Neuropathy Consortium Ii, University Of Miami RCV003447245 SCV004174353 uncertain significance Charcot-Marie-Tooth disease axonal type 2O 2016-01-06 no assertion criteria provided literature only

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