ClinVar Miner

Submissions for variant NM_004082.5(DCTN1):c.1584+5A>G

dbSNP: rs1283119090
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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 RCV000814802 SCV000955229 uncertain significance Amyotrophic lateral sclerosis type 1; Perry syndrome; Neuronopathy, distal hereditary motor, type 7B 2018-07-11 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. Nucleotide substitutions within 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 may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with DCTN1-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change falls in intron 14 of the DCTN1 gene. It does not directly change the encoded amino acid sequence of the DCTN1 protein, but it affects a nucleotide within the consensus splice site of the intron. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in DCTN1 cause disease.

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