ClinVar Miner

Submissions for variant NM_004082.5(DCTN1):c.325_327dup (p.Pro109_Asp110insPro)

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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 RCV003038629 SCV003324451 uncertain significance Amyotrophic lateral sclerosis type 1; Perry syndrome; Neuronopathy, distal hereditary motor, type 7B 2022-03-16 criteria provided, single submitter clinical testing This variant, c.325_327dup, results in the insertion of 1 amino acid(s) of the DCTN1 protein (p.Pro109dup), but otherwise preserves the integrity of the reading frame. 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 affected with DCTN1-related conditions. This variant is not present in population databases (gnomAD no frequency).

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