ClinVar Miner

Submissions for variant NM_004082.5(DCTN1):c.73C>T (p.Arg25Trp)

gnomAD frequency: 0.00003  dbSNP: rs756611519
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001995802 SCV002277040 uncertain significance Amyotrophic lateral sclerosis type 1; Perry syndrome; Neuronopathy, distal hereditary motor, type 7B 2025-01-26 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 25 of the DCTN1 protein (p.Arg25Trp). This variant is present in population databases (rs756611519, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with DCTN1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1482795). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt DCTN1 protein function with a negative predictive value of 95%. 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.
Department of Neurology, Xijing Hospital, Fourth Military Medical University RCV002295358 SCV002553226 likely pathogenic Perry syndrome 2022-03-01 criteria provided, single submitter clinical testing

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