ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.6560A>G (p.Glu2187Gly)

dbSNP: rs745882724
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001996938 SCV002219135 uncertain significance Jeune thoracic dystrophy 2021-11-06 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 2187 of the DYNC2H1 protein (p.Glu2187Gly). This variant is present in population databases (rs745882724, gnomAD 0.006%). This missense change has been observed in individual(s) with clinical features of asphyxiating thoracic dystrophy (Invitae). 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 not expected to disrupt DYNC2H1 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.
GeneDx RCV004591656 SCV005081500 uncertain significance not provided 2023-08-07 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

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