ClinVar Miner

Submissions for variant NM_004082.5(DCTN1):c.2316+5G>A

dbSNP: rs913439751
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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 RCV001888314 SCV002142482 uncertain significance Amyotrophic lateral sclerosis type 1; Perry syndrome; Neuronopathy, distal hereditary motor, type 7B 2022-11-04 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). 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. Variants that disrupt 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. ClinVar contains an entry for this variant (Variation ID: 1377081). This variant has not been reported in the literature in individuals affected with DCTN1-related conditions. This sequence change falls in intron 20 of the DCTN1 gene. It does not directly change the encoded amino acid sequence of the DCTN1 protein. It affects a nucleotide within the consensus splice site.

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