ClinVar Miner

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

gnomAD frequency: 0.00003  dbSNP: rs576198476
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000332896 SCV000334157 uncertain significance not provided 2015-08-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000765701 SCV000897054 uncertain significance Amyotrophic lateral sclerosis type 1; Perry syndrome; Neuronopathy, distal hereditary motor, type 7B 2018-10-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000765701 SCV001417110 uncertain significance Amyotrophic lateral sclerosis type 1; Perry syndrome; Neuronopathy, distal hereditary motor, type 7B 2025-01-12 criteria provided, single submitter clinical testing 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. This variant is present in population databases (rs576198476, gnomAD 0.03%). Disruption of this splice site has been observed in individual(s) with clinical features of distal hereditary motor neuropathy (PMID: 33369814). ClinVar contains an entry for this variant (Variation ID: 282607). 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.
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002252080 SCV002523386 pathogenic See cases 2019-04-05 criteria provided, single submitter clinical testing ACMG classification criteria: PVS1, PM2, PP3
Ambry Genetics RCV002328763 SCV002627215 likely benign Inborn genetic diseases 2020-12-22 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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