ClinVar Miner

Submissions for variant NM_004082.5(DCTN1):c.1288-6A>G

gnomAD frequency: 0.00001  dbSNP: rs1236101222
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000644483 SCV000766181 uncertain significance Amyotrophic lateral sclerosis type 1; Perry syndrome; Neuronopathy, distal hereditary motor, type 7B 2022-09-23 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 create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 536164). This variant has not been reported in the literature in individuals affected with DCTN1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.007%). This sequence change falls in intron 12 of the DCTN1 gene. It does not directly change the encoded amino acid sequence of the DCTN1 protein.

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