ClinVar Miner

Submissions for variant NM_004082.5(DCTN1):c.844-5C>G

gnomAD frequency: 0.00001  dbSNP: rs1435999777
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001365505 SCV001561778 uncertain significance Amyotrophic lateral sclerosis type 1; Perry syndrome; Neuronopathy, distal hereditary motor, type 7B 2020-06-30 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with DCTN1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change falls in intron 9 of the DCTN1 gene. It does not directly change the encoded amino acid sequence of the DCTN1 protein.

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