ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.13683G>A (p.Thr4561=) (rs192742245)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000814553 SCV000954966 uncertain significance Charcot-Marie-Tooth disease, axonal, type 2O 2018-11-09 criteria provided, single submitter clinical testing This sequence change affects codon 4561 of the DYNC1H1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the DYNC1H1 protein. This variant is present in population databases (rs192742245, ExAC 0.03%). This variant has not been reported in the literature in individuals with DYNC1H1-related disease. 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 RCV000842593 SCV000984618 likely benign not provided 2018-04-30 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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