ClinVar Miner

Submissions for variant NM_004082.5(DCTN1):c.121C>T (p.Arg41Ter)

dbSNP: rs2103723456
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001983521 SCV002272005 uncertain significance Amyotrophic lateral sclerosis type 1; Perry syndrome; Neuronopathy, distal hereditary motor, type 7B 2020-12-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg41*) in the DCTN1 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in DCTN1 cause disease. 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. 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).

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