ClinVar Miner

Submissions for variant NM_004082.5(DCTN1):c.359-6C>T

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002339845 SCV002619444 uncertain significance Inborn genetic diseases 2020-03-04 criteria provided, single submitter clinical testing The c.359-6C>T intronic variant results from a C to T substitution 6 nucleotides upstream from coding exon 4 in the DCTN1 gene. This nucleotide position is well conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is not predicted to have any significant effect on this splice acceptor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003775676 SCV004570552 likely benign Amyotrophic lateral sclerosis type 1; Perry syndrome; Neuronopathy, distal hereditary motor, type 7B 2024-10-13 criteria provided, single submitter clinical testing

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