ClinVar Miner

Submissions for variant NM_004082.5(DCTN1):c.2015+3A>G

gnomAD frequency: 0.00012  dbSNP: rs200057343
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001301332 SCV001490498 uncertain significance Amyotrophic lateral sclerosis type 1; Perry syndrome; Neuronopathy, distal hereditary motor, type 7B 2022-06-19 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. 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 is not likely to affect RNA splicing. ClinVar contains an entry for this variant (Variation ID: 1004603). This variant has not been reported in the literature in individuals affected with DCTN1-related conditions. This variant is present in population databases (rs200057343, gnomAD 0.01%). This sequence change falls in intron 17 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.
Baylor Genetics RCV001336113 SCV001529418 uncertain significance Neuronopathy, distal hereditary motor, type 7B 2018-03-26 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Ambry Genetics RCV002418908 SCV002720320 likely benign Inborn genetic diseases 2019-11-21 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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