ClinVar Miner

Submissions for variant NM_004082.5(DCTN1):c.414+1G>T

dbSNP: rs576198476
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001981751 SCV002221116 uncertain significance Amyotrophic lateral sclerosis type 1; Perry syndrome; Neuronopathy, distal hereditary motor, type 7B 2021-11-21 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 disrupt the consensus splice site. Disruption of this splice site has been observed in individual(s) with distal hereditary motor neuropathy (PMID: 33369814). This variant is present in population databases (rs576198476, gnomAD 0.004%). This sequence change affects a donor splice site in intron 5 of the DCTN1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), however the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in DCTN1 cause disease.
Revvity Omics, Revvity RCV003146397 SCV003834295 uncertain significance not provided 2020-03-17 criteria provided, single submitter clinical testing

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