ClinVar Miner

Submissions for variant NM_004082.5(DCTN1):c.3564A>G (p.Gln1188=)

dbSNP: rs1674099395
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002019786 SCV002280686 uncertain significance Amyotrophic lateral sclerosis type 1; Perry syndrome; Neuronopathy, distal hereditary motor, type 7B 2021-10-14 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. This variant has not been reported in the literature in individuals affected with DCTN1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change affects codon 1188 of the DCTN1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the DCTN1 protein.

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