ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.5311G>A (p.Gly1771Arg) (rs139842853)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000414779 SCV000492652 uncertain significance Muscular Diseases; Muscle weakness 2016-02-17 no assertion criteria provided clinical testing
Genetic Services Laboratory, University of Chicago RCV000502250 SCV000594441 likely benign not specified 2016-10-05 criteria provided, single submitter clinical testing
Invitae RCV000463416 SCV000548835 uncertain significance Charcot-Marie-Tooth disease, axonal, type 2O 2016-09-09 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 1771 of the DYNC1H1 protein (p.Gly1771Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is present in population databases (rs139842853, ExAC 0.02%) but has not been reported in the literature in individuals with a DYNC1H1-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). In summary, this variant is a rare missense change with uncertain impact on protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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