ClinVar Miner

Submissions for variant NM_004082.5(DCTN1):c.453+6A>G

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003784184 SCV004572727 uncertain significance Amyotrophic lateral sclerosis type 1; Perry syndrome; Neuronopathy, distal hereditary motor, type 7B 2023-01-07 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with DCTN1-related conditions. This variant is present in population databases (rs775577235, gnomAD 0.009%). This sequence change falls in intron 7 of the DCTN1 gene. It does not directly change the encoded amino acid sequence of the DCTN1 protein. It affects a nucleotide within the consensus splice site. 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. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing.

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