ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.345-3T>G (rs1060502203)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000471335 SCV000548833 uncertain significance Charcot-Marie-Tooth disease, axonal, type 2O 2016-06-20 criteria provided, single submitter clinical testing This sequence change falls in intron 2 of the DYNC1H1 mRNA. It does not directly change the encoded amino acid sequence of the DYNC1H1 protein, but it affects a nucleotide within the consensus splice site of the intron. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a DYNC1H1-related disease. Algorithms developed to predict the effect of nucleotide changes on mRNA splicing suggest that this intronic variant may alter mRNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this is a novel intronic change with uncertain impact on splicing. Therefore, it has been classified as a Variant of Uncertain Significance.

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