ClinVar Miner

Submissions for variant NM_004082.5(DCTN1):c.442C>T (p.Arg148Trp)

gnomAD frequency: 0.00003  dbSNP: rs148810193
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000517517 SCV000613070 likely benign not provided 2017-11-16 criteria provided, single submitter clinical testing
Invitae RCV000644478 SCV000766176 uncertain significance Amyotrophic lateral sclerosis type 1; Perry syndrome; Neuronopathy, distal hereditary motor, type 7B 2024-01-13 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 148 of the DCTN1 protein (p.Arg148Trp). This variant is present in population databases (rs148810193, gnomAD 0.01%). This missense change has been observed in individual(s) with amyotrophic lateral sclerosis (ALS) (PMID: 23143281). ClinVar contains an entry for this variant (Variation ID: 447238). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. Experimental studies have shown that this missense change does not substantially affect DCTN1 function (PMID: 23143281). 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.
Baylor Genetics RCV001329176 SCV001520538 uncertain significance Neuronopathy, distal hereditary motor, type 7B 2019-09-06 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Mayo Clinic Laboratories, Mayo Clinic RCV000517517 SCV004224933 uncertain significance not provided 2023-03-10 criteria provided, single submitter clinical testing

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