ClinVar Miner

Submissions for variant NM_004082.5(DCTN1):c.280-3C>T

gnomAD frequency: 0.00094  dbSNP: rs114364621
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000871932 SCV001013670 likely benign Amyotrophic lateral sclerosis type 1; Perry syndrome; Neuronopathy, distal hereditary motor, type 7B 2024-01-24 criteria provided, single submitter clinical testing
Athena Diagnostics RCV001664510 SCV001879917 benign not specified 2020-11-27 criteria provided, single submitter clinical testing
GeneDx RCV001692307 SCV001910862 benign not provided 2021-05-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002434126 SCV002749781 likely benign Inborn genetic diseases 2020-04-13 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.
PreventionGenetics, part of Exact Sciences RCV003965748 SCV004787557 likely benign DCTN1-related disorder 2022-09-01 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Breakthrough Genomics, Breakthrough Genomics RCV001692307 SCV005257606 likely benign not provided criteria provided, single submitter not provided

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